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For: Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS;  American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16:e1. [PMID: 25356975 DOI: 10.1038/gim.2014.128] [Cited by in Crossref: 165] [Cited by in F6Publishing: 116] [Article Influence: 27.5] [Reference Citation Analysis]
Number Citing Articles
1 Tchan M. Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism. Rev Endocr Metab Disord. 2018;19:69-79. [PMID: 29497930 DOI: 10.1007/s11154-018-9444-5] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
2 Ellingwood SS, Cheng A. Biochemical and clinical aspects of glycogen storage diseases. J Endocrinol 2018;238:R131-41. [PMID: 29875163 DOI: 10.1530/JOE-18-0120] [Cited by in Crossref: 24] [Cited by in F6Publishing: 8] [Article Influence: 8.0] [Reference Citation Analysis]
3 Colonetti K, Bento Dos Santos B, Nalin T, Moura de Souza CF, Triplett EW, Dobbler PT, Schwartz IVD, Roesch LFW. Hepatic glycogen storage diseases are associated to microbial dysbiosis. PLoS One 2019;14:e0214582. [PMID: 30939160 DOI: 10.1371/journal.pone.0214582] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
4 Khalaf D, Bell H, Dale D, Gupta V, Faghfoury H, Morel CF, Tierens A, Weinstein DA, Yan J, Thyagu S, Maze D. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor. JIMD Rep 2019;49:37-42. [PMID: 31788408 DOI: 10.1002/jmd2.12069] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
5 Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet J Rare Dis 2015;10:164. [PMID: 26714856 DOI: 10.1186/s13023-015-0376-9] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
6 Quackenbush D, Devito J, Garibaldi L, Buryk M. Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. Journal of Pediatric Endocrinology and Metabolism 2018;31:473-8. [DOI: 10.1515/jpem-2017-0209] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
7 Gjorgjieva M, Mithieux G, Rajas F. Hepatic stress associated with pathologies characterized by disturbed glucose production. Cell Stress 2019;3:86-99. [PMID: 31225503 DOI: 10.15698/cst2019.03.179] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
8 Alagbonsi AI, Salman TM, Sulaiman SO, Adedini KA, Kebu S. Possible mechanisms of the hypoglycaemic effect of artesunate: Gender implication. Metabol Open 2021;10:100087. [PMID: 33778463 DOI: 10.1016/j.metop.2021.100087] [Reference Citation Analysis]
9 Vernuccio F, Porrello G, Cannella R, Vernuccio L, Midiri M, Giannitrapani L, Soresi M, Brancatelli G. Benign and malignant mimickers of infiltrative hepatocellular carcinoma: tips and tricks for differential diagnosis on CT and MRI. Clin Imaging 2021;70:33-45. [PMID: 33120287 DOI: 10.1016/j.clinimag.2020.10.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Marion RW, Paljevic E. The Glycogen Storage Disorders. Pediatrics in Review 2020;41:41-4. [DOI: 10.1542/pir.2018-0146] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 Kang HR, Gjorgjieva M, Smith SN, Brooks ED, Chen Z, Burgess SM, Chandler RJ, Waskowicz LR, Grady KM, Li S, Mithieux G, Venditti CP, Rajas F, Koeberl DD. Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease. Mol Ther Methods Clin Dev 2019;15:383-91. [PMID: 31890731 DOI: 10.1016/j.omtm.2019.10.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
12 Mehyar LS, Abu-arja R, Rangarajan HG, Pai V, Bartholomew DW, Rose MJ, Bajwa RPS. Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections. Bone Marrow Transplant 2018;53:1076-8. [DOI: 10.1038/s41409-018-0147-z] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 2.3] [Reference Citation Analysis]
13 Weatherald J, Savale L, Humbert M. Medical Management of Pulmonary Hypertension with Unclear and/or Multifactorial Mechanisms (Group 5): Is There a Role for Pulmonary Arterial Hypertension Medications? Curr Hypertens Rep 2017;19:86. [PMID: 29046979 DOI: 10.1007/s11906-017-0783-5] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
14 Seem SA, Yuan YV, Tou JC. Chocolate and chocolate constituents influence bone health and osteoporosis risk. Nutrition 2019;65:74-84. [PMID: 31029926 DOI: 10.1016/j.nut.2019.02.011] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
15 Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clin Genet 2018;93:350-5. [PMID: 28685844 DOI: 10.1111/cge.13093] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
16 Louro JM, Alves AM, Brandão JR, França M. Hepatic adenomatosis in glycogen storage disease: Radio-pathological correlation. Hepatobiliary Pancreat Dis Int 2021:S1499-3872(21)00117-X. [PMID: 34272153 DOI: 10.1016/j.hbpd.2021.05.009] [Reference Citation Analysis]
17 Worth C, Dunne M, Ghosh A, Harper S, Banerjee I. Continuous glucose monitoring for hypoglycaemia in children: Perspectives in 2020. Pediatr Diabetes 2020;21:697-706. [PMID: 32315515 DOI: 10.1111/pedi.13029] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
18 Pogoriler J, O'Neill AF, Voss SD, Shamberger RC, Perez-Atayde AR. Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. Pediatr Dev Pathol. 2018;21:84-90. [PMID: 28382841 DOI: 10.1177/1093526617693540] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
19 Hoogerland JA, Peeks F, Hijmans BS, Wolters JC, Kooijman S, Bos T, Bleeker A, van Dijk TH, Wolters H, Gerding A, van Eunen K, Havinga R, Pronk ACM, Rensen PCN, Mithieux G, Rajas F, Kuipers F, Reijngoud DJ, Derks TGJ, Oosterveer MH. Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia. J Inherit Metab Dis 2021;44:879-92. [PMID: 33739445 DOI: 10.1002/jimd.12380] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
20 Manta-Vogli PD, Schulpis KH, Dotsikas Y, Loukas YL. Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs). J Pediatr Endocrinol Metab 2020;33:5-20. [PMID: 31804959 DOI: 10.1515/jpem-2019-0048] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
21 Yavarow ZA, Kang HR, Waskowicz LR, Bay BH, Young SP, Yen PM, Koeberl DD. Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia. Hum Mol Genet 2020;29:286-94. [PMID: 31816064 DOI: 10.1093/hmg/ddz290] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
22 Baheti AD, Yeh MM, O'Malley R, Lalwani N. Malignant Transformation of Hepatic Adenoma in Glycogen Storage Disease Type-1a: Report of an Exceptional Case Diagnosed on Surveillance Imaging. J Clin Imaging Sci. 2015;5:47. [PMID: 26430540 DOI: 10.4103/2156-7514.163991] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
23 Puri P, Dhiman RK, Taneja S, Tandon P, Merli M, Anand AC, Arora A, Acharya SK, Benjamin J, Chawla YK, Dadhich S, Duseja A, Eapan CE, Goel A, Kalra N, Kapoor D, Kumar A, Madan K, Nagral A, Pandey G, Rao PN, Saigal S, Saraf N, Saraswat VA, Saraya A, Sarin SK, Sharma P, Shalimar, Shukla A, Sidhu SS, Singh N, Singh SP, Srivastava A, Wadhawan M. Nutrition in Chronic Liver Disease: Consensus Statement of the Indian National Association for Study of the Liver. J Clin Exp Hepatol 2021;11:97-143. [PMID: 33679050 DOI: 10.1016/j.jceh.2020.09.003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
24 Gjorgjieva M, Oosterveer MH, Mithieux G, Rajas F. Mechanisms by Which Metabolic Reprogramming in GSD1 Liver Generates a Favorable Tumorigenic Environment. Journal of Inborn Errors of Metabolism and Screening 2016;4:232640981667942. [DOI: 10.1177/2326409816679429] [Cited by in Crossref: 8] [Cited by in F6Publishing: 3] [Article Influence: 1.6] [Reference Citation Analysis]
25 Curtis D. Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia. J Med Genet 2021:jmedgenet-2021-107752. [PMID: 33910933 DOI: 10.1136/jmedgenet-2021-107752] [Reference Citation Analysis]
26 Wan J, Zhang ZC, Yang MQ, Sun XM, Yin L, Chen CQ. Minimally invasive surgery for glycogen storage disease combined with inflammatory bowel disease: A case report. World J Clin Cases 2021;9:4342-7. [PMID: 34141799 DOI: 10.12998/wjcc.v9.i17.4342] [Reference Citation Analysis]
27 Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M, Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B; Members of the Urea Cycle Disorders Consortium (UCDC). Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight 2020;5:132342. [PMID: 31990680 DOI: 10.1172/jci.insight.132342] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
28 Sirrs S, Hannah-shmouni F, Nantel S, Neuberger J, Yoshida EM. Transplantation as disease modifying therapy in adults with inherited metabolic disorders. J Inherit Metab Dis 2018;41:885-96. [DOI: 10.1007/s10545-018-0141-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
29 Du C, Li Z, Wei H, Zhang M, Hu M, Zhang C, Luo X, Liang Y. Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib. BMC Med Genomics 2021;14:81. [PMID: 33731098 DOI: 10.1186/s12920-021-00936-9] [Reference Citation Analysis]
30 Khanna R, Verma SK. Pediatric hepatocellular carcinoma. World J Gastroenterol. 2018;24:3980-3999. [PMID: 30254403 DOI: 10.3748/wjg.v24.i35.3980] [Cited by in CrossRef: 42] [Cited by in F6Publishing: 28] [Article Influence: 14.0] [Reference Citation Analysis]
31 Martinez CC, Tonon T, Nalin T, Refosco LF, de Souza CFM, Schwartz IVD. Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases. JIMD Rep 2019;45:21-7. [PMID: 30242630 DOI: 10.1007/8904_2018_131] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
32 Burda P, Hochuli M. Hepatic glycogen storage disorders: what have we learned in recent years? Curr Opin Clin Nutr Metab Care. 2015;18:415-421. [PMID: 26001652 DOI: 10.1097/mco.0000000000000181] [Cited by in Crossref: 36] [Cited by in F6Publishing: 15] [Article Influence: 7.2] [Reference Citation Analysis]
33 Wang W, Yu R, Tan W, Dan Y, Deng G, Xia J. A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report. BMC Med Genet 2019;20:85. [PMID: 31109299 DOI: 10.1186/s12881-019-0816-9] [Reference Citation Analysis]
34 Huu NT, Yoshida H, Yamaguchi M. Tumor suppressor gene OSCP1/NOR1 regulates apoptosis, proliferation, differentiation, and ROS generation during eye development of Drosophila melanogaster. FEBS J 2015;282:4727-46. [PMID: 26411401 DOI: 10.1111/febs.13528] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
35 Corey SJ, Oyarbide U. New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing. Hematology Am Soc Hematol Educ Program 2017;2017:172-80. [PMID: 29222253 DOI: 10.1182/asheducation-2017.1.172] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
36 Grünert SC, Elling R, Maag B, Wortmann SB, Derks TGJ, Hannibal L, Schumann A, Rosenbaum-Fabian S, Spiekerkoetter U. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. Orphanet J Rare Dis 2020;15:218. [PMID: 32838757 DOI: 10.1186/s13023-020-01503-8] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
37 Ross KM, Ferrecchia IA, Dahlberg KR, Dambska M, Ryan PT, Weinstein DA. Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies. Adv Nutr 2020;11:439-46. [PMID: 31665208 DOI: 10.1093/advances/nmz092] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
38 Gjorgjieva M, Sobolewski C, Dolicka D, Correia de Sousa M, Foti M. miRNAs and NAFLD: from pathophysiology to therapy. Gut 2019;68:2065-79. [PMID: 31300518 DOI: 10.1136/gutjnl-2018-318146] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 20.5] [Reference Citation Analysis]
39 Li AM, Thyagu S, Maze D, Schreiber R, Sirrs S, Stockler-Ipsiroglu S, Sutherland H, Vercauteren S, Schultz KR. Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length. Pediatr Hematol Oncol 2018;35:45-51. [PMID: 29652549 DOI: 10.1080/08880018.2018.1440675] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
40 Pursell N, Gierut J, Zhou W, Dills M, Diwanji R, Gjorgjieva M, Saxena U, Yang JS, Shah A, Venkat N, Storr R, Kim B, Wang W, Abrams M, Raffin M, Mithieux G, Rajas F, Dudek H, Brown BD, Lai C. Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases. Mol Ther 2018;26:1771-82. [PMID: 29784585 DOI: 10.1016/j.ymthe.2018.04.023] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 4.7] [Reference Citation Analysis]
41 Shimizu S, Sakamoto S, Yamada M, Fukuda A, Yanagi Y, Uchida H, Mimori K, Shoji K, Funaki T, Miyairi I, Nakano N, Haga C, Yoshioka T, Imadome KI, Horikawa R, Kasahara M. Immunological features and complications in patients with glycogen storage disease 1b after living donor liver transplantation. Pediatr Transplant 2021;:e14104. [PMID: 34339091 DOI: 10.1111/petr.14104] [Reference Citation Analysis]
42 Liang Y, Du C, Wei H, Zhang C, Zhang M, Hu M, Fang F, Luo X. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases. Mol Genet Genomic Med 2020;8:e1444. [PMID: 32772503 DOI: 10.1002/mgg3.1444] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
43 Knotek M, Novak R, Jaklin-Kekez A, Mrzljak A. Combined liver-kidney transplantation for rare diseases. World J Hepatol 2020;12:722-37. [PMID: 33200012 DOI: 10.4254/wjh.v12.i10.722] [Reference Citation Analysis]
44 Jauze L, Monteillet L, Mithieux G, Rajas F, Ronzitti G. Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III. Hum Gene Ther 2019;30:1263-73. [PMID: 31319709 DOI: 10.1089/hum.2019.102] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
45 Zhang T, Peterson RT. Modeling Lysosomal Storage Diseases in the Zebrafish. Front Mol Biosci 2020;7:82. [PMID: 32435656 DOI: 10.3389/fmolb.2020.00082] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 6.0] [Reference Citation Analysis]
46 Squires JE. When Considering Liver Transplant for Children with Glycogen Storage Disease 1b. Liver Transpl 2019;26:12-3. [DOI: 10.1002/lt.25688] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
47 Kim YM, Choi JH, Lee BH, Kim GH, Kim KM, Yoo HW. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia. Orphanet J Rare Dis 2020;15:45. [PMID: 32046761 DOI: 10.1186/s13023-020-1321-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
48 Erlacher M, Strahm B. Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood. Front Pediatr 2015;3:64. [PMID: 26217651 DOI: 10.3389/fped.2015.00064] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
49 Verbeek RJ, Sentner CP, Smit GP, Maurits NM, Derks TG, van der Hoeven JH, Sival DA. Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III. Ultrasound Med Biol 2016;42:133-42. [PMID: 26437929 DOI: 10.1016/j.ultrasmedbio.2015.08.013] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
50 Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. Mol Genet Genomic Med 2019;7:e877. [PMID: 31508908 DOI: 10.1002/mgg3.877] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
51 Peeks F, Hoogeveen IJ, Feldbrugge RL, Burghard R, de Boer F, Fokkert-Wilts MJ, van der Klauw MM, Oosterveer MH, Derks TGJ. A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management. J Inherit Metab Dis 2021;44:1136-50. [PMID: 33834518 DOI: 10.1002/jimd.12383] [Reference Citation Analysis]
52 Chou JY, Cho JH, Kim GY, Mansfield BC. Molecular biology and gene therapy for glycogen storage disease type Ib. J Inherit Metab Dis 2018;41:1007-14. [PMID: 29663270 DOI: 10.1007/s10545-018-0180-5] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 5.0] [Reference Citation Analysis]
53 Gjorgjieva M, Monteillet L, Calderaro J, Mithieux G, Rajas F. Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. J Inherit Metab Dis 2018;41:955-63. [PMID: 29869165 DOI: 10.1007/s10545-018-0207-y] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
54 Cappello AR, Curcio R, Lappano R, Maggiolini M, Dolce V. The Physiopathological Role of the Exchangers Belonging to the SLC37 Family. Front Chem 2018;6:122. [PMID: 29719821 DOI: 10.3389/fchem.2018.00122] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
55 Sergi CM. Carcinoma of the Liver in Children and Adolescents. In: Sergi CM, editor. Liver Cancer. Exon Publications; 2021. pp. 1-38. [DOI: 10.36255/exonpublications.livercancer.2021.ch1] [Reference Citation Analysis]
56 Stockler-Ipsiroglu S, Potter BK, Yuskiv N, Tingley K, Patterson M, van Karnebeek C. Developments in evidence creation for treatments of inborn errors of metabolism. J Inherit Metab Dis 2021;44:88-98. [PMID: 32944978 DOI: 10.1002/jimd.12315] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
57 Li X, Jing H, Cheng L, Xia J, Wang J, Li Q, Liu C, Cai P. A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging. Quant Imaging Med Surg 2021;11:2785-91. [PMID: 34079743 DOI: 10.21037/qims-20-746] [Reference Citation Analysis]
58 Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, Schwartz IVD. A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia. Orphanet J Rare Dis 2021;16:254. [PMID: 34082801 DOI: 10.1186/s13023-021-01877-3] [Reference Citation Analysis]
59 Rossi A, Simeoli C, Salerno M, Ferrigno R, Della Casa R, Colao A, Strisciuglio P, Parenti G, Pivonello R, Melis D. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement. Orphanet J Rare Dis 2020;15:99. [PMID: 32306986 DOI: 10.1186/s13023-020-01377-w] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
60 Steunenberg TA, Peeks F, Hoogeveen IJ, Mitchell JJ, Mundy H, de Boer F, Lubout CM, de Souza CF, Weinstein DA, Derks TG. Safety issues associated with dietary management in patients with hepatic glycogen storage disease. Molecular Genetics and Metabolism 2018;125:79-85. [DOI: 10.1016/j.ymgme.2018.07.004] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
61 Waskowicz LR, Zhou J, Landau DJ, Brooks ED, Lim A, Yavarow ZA, Kudo T, Zhang H, Wu Y, Grant S, Young SP, Huat BB, Yen PM, Koeberl DD. Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. Hum Mol Genet 2019;28:143-54. [PMID: 30256948 DOI: 10.1093/hmg/ddy343] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 7.5] [Reference Citation Analysis]
62 Dale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol. 2019;26:16-21. [PMID: 30451720 DOI: 10.1097/moh.0000000000000474] [Cited by in Crossref: 18] [Cited by in F6Publishing: 7] [Article Influence: 18.0] [Reference Citation Analysis]
63 Ceccarani C, Bassanini G, Montanari C, Casiraghi MC, Ottaviano E, Morace G, Biasucci G, Paci S, Borghi E, Verduci E. Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients. Metabolites 2020;10:E133. [PMID: 32235604 DOI: 10.3390/metabo10040133] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 7.0] [Reference Citation Analysis]
64 Weinstein DA, Steuerwald U, De Souza CFM, Derks TGJ. Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis. Pediatr Clin North Am 2018;65:247-65. [PMID: 29502912 DOI: 10.1016/j.pcl.2017.11.005] [Cited by in Crossref: 31] [Cited by in F6Publishing: 19] [Article Influence: 10.3] [Reference Citation Analysis]
65 Hahn E, Putra J. Hepatocellular adenoma in the paediatric population: Molecular classification and clinical associations. World J Gastroenterol 2020;26:2294-304. [PMID: 32476794 DOI: 10.3748/wjg.v26.i19.2294] [Cited by in CrossRef: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
66 Kang HR, Waskowicz L, Seifts AM, Landau DJ, Young SP, Koeberl DD. Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia. Mol Ther Methods Clin Dev 2019;13:265-73. [PMID: 30859111 DOI: 10.1016/j.omtm.2019.02.002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
67 Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH. Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. Ann Lab Med 2017;37:261-6. [PMID: 28224773 DOI: 10.3343/alm.2017.37.3.261] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
68 Monteillet L, Gjorgjieva M, Silva M, Verzieux V, Imikirene L, Duchampt A, Guillou H, Mithieux G, Rajas F. Intracellular lipids are an independent cause of liver injury and chronic kidney disease in non alcoholic fatty liver disease-like context. Mol Metab. 2018;16:100-115. [PMID: 30100243 DOI: 10.1016/j.molmet.2018.07.006] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 7.7] [Reference Citation Analysis]
69 Menon J, Vij M, Sachan D, Rammohan A, Shanmugam N, Kaliamoorthy I, Rela M. Pediatric metabolic liver diseases: Evolving role of liver transplantation. World J Transplant 2021;11:161-79. [PMID: 34164292 DOI: 10.5500/wjt.v11.i6.161] [Cited by in CrossRef: 1] [Article Influence: 1.0] [Reference Citation Analysis]
70 Vernuccio F, Austin S, Meyer M, Guy CD, Kishnani PS, Marin D. "Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports. World J Clin Cases 2021;9:871-7. [PMID: 33585634 DOI: 10.12998/wjcc.v9.i4.871] [Reference Citation Analysis]
71 La Rose AM, Bazioti V, Hoogerland JA, Svendsen AF, Groenen AG, van Faassen M, Rutten MGS, Kloosterhuis NJ, Dethmers-Ausema B, Nijland JH, Mithieux G, Rajas F, Kuipers F, Lukens MV, Soehnlein O, Oosterveer MH, Westerterp M. Hepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia. Mol Metab 2021;53:101265. [PMID: 34091064 DOI: 10.1016/j.molmet.2021.101265] [Reference Citation Analysis]
72 Perry A, Douillard C, Jonca F, Glowacki F, Leroy X, Caveriviere P, Hubert A, Labrune P. Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia. JIMD Rep 2020;52:17-22. [PMID: 32154055 DOI: 10.1002/jmd2.12096] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
73 Choi R, Park HD, Kang B, Choi SY, Ki CS, Lee SY, Kim JW, Song J, Choe YH. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC Med Genet 2016;17:33. [PMID: 27103379 DOI: 10.1186/s12881-016-0295-1] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.6] [Reference Citation Analysis]
74 Rutten MGS, Derks TGJ, Huijkman NCA, Bos T, Kloosterhuis NJ, van de Kolk KCWA, Wolters JC, Koster MH, Bongiovanni L, Thomas RE, de Bruin A, van de Sluis B, Oosterveer MH. Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing. Hepatology 2021. [PMID: 34157136 DOI: 10.1002/hep.32022] [Reference Citation Analysis]
75 Hochuli M, Christ E, Meienberg F, Lehmann R, Krützfeldt J, Baumgartner MR. Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. J Inherit Metab Dis 2015;38:1093-8. [DOI: 10.1007/s10545-015-9864-2] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
76 Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. J Inherit Metab Dis 2020;43:770-7. [PMID: 32064649 DOI: 10.1002/jimd.12224] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
77 Brooks ED, Landau DJ, Everitt JI, Brown TT, Grady KM, Waskowicz L, Bass CR, D'Angelo J, Asfaw YG, Williams K, Kishnani PS, Koeberl DD. Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. J Inherit Metab Dis 2018;41:965-76. [PMID: 30043186 DOI: 10.1007/s10545-018-0223-y] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
78 Zhou J, Waskowicz LR, Lim A, Liao XH, Lian B, Masamune H, Refetoff S, Tran B, Koeberl DD, Yen PM. A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. Thyroid 2019;29:1158-67. [PMID: 31337282 DOI: 10.1089/thy.2019.0007] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 13.0] [Reference Citation Analysis]
79 Hoogeveen IJ, Peeks F, de Boer F, Lubout CMA, de Koning TJ, Te Boekhorst S, Zandvoort RJ, Burghard R, van Spronsen FJ, Derks TGJ. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring. J Inherit Metab Dis 2018;41:929-36. [PMID: 29600495 DOI: 10.1007/s10545-018-0167-2] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
80 Kaiser N, Gautschi M, Bosanska L, Meienberg F, Baumgartner MR, Spinas GA, Hochuli M. Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. Molecular Genetics and Metabolism 2019;126:355-61. [DOI: 10.1016/j.ymgme.2019.02.008] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
81 Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn 2016;18:446-53. [PMID: 26944031 DOI: 10.1016/j.jmoldx.2016.01.002] [Cited by in Crossref: 52] [Cited by in F6Publishing: 42] [Article Influence: 10.4] [Reference Citation Analysis]
82 Zhang L, Cho JH, Arnaoutova I, Mansfield BC, Chou JY. An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia. J Inherit Metab Dis 2019;42:470-9. [PMID: 30714174 DOI: 10.1002/jimd.12069] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
83 Chen MA, Weinstein DA. Glycogen storage diseases: Diagnosis, treatment and outcome. TRD 2016;1:45-72. [DOI: 10.3233/trd-160006] [Cited by in Crossref: 14] [Article Influence: 2.8] [Reference Citation Analysis]
84 Jones AM, Tower C, Green D, Stepien KM. Multidisciplinary management of pregnancy and labour in a patient with glycogen storage disease type 1a. BMJ Case Rep 2021;14:e241161. [PMID: 34380672 DOI: 10.1136/bcr-2020-241161] [Reference Citation Analysis]
85 Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136:1033-1043. [PMID: 32294159 DOI: 10.1182/blood.2019004465] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 20.0] [Reference Citation Analysis]
86 Rossi A, Miele E, Fecarotta S, Veiga-da-Cunha M, Martinelli M, Mollica C, D'Armiento M, Mozzillo E, Strisciuglio P, Derks TGJ, Staiano A, Parenti G. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report. Ital J Pediatr 2021;47:149. [PMID: 34215305 DOI: 10.1186/s13052-021-01100-w] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
87 Landau DJ, Brooks ED, Perez-Pinera P, Amarasekara H, Mefferd A, Li S, Bird A, Gersbach CA, Koeberl DD. In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA. Mol Ther 2016;24:697-706. [PMID: 26865405 DOI: 10.1038/mt.2016.35] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 2.6] [Reference Citation Analysis]
88 Conley JM, Lambright CS, Evans N, McCord J, Strynar MJ, Hill D, Medlock-Kakaley E, Wilson VS, Gray LE Jr. Hexafluoropropylene oxide-dimer acid (HFPO-DA or GenX) alters maternal and fetal glucose and lipid metabolism and produces neonatal mortality, low birthweight, and hepatomegaly in the Sprague-Dawley rat. Environ Int 2021;146:106204. [PMID: 33126064 DOI: 10.1016/j.envint.2020.106204] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 10.0] [Reference Citation Analysis]
89 Buscemi S, Noto D, Buscemi C, Barile AM, Rosafio G, Settipani V, Giammanco A, Averna M. Resting Energy Expenditure and Substrate Oxidation in Malnourished Patients With Type 1 Glycogenosis. J Clin Endocrinol Metab 2019;104:5566-72. [PMID: 31322653 DOI: 10.1210/jc.2019-00585] [Reference Citation Analysis]
90 Forny P, Burda P, Bode P, Rohrbach M. Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism? JIMD Rep 2021;57:58-66. [PMID: 33473341 DOI: 10.1002/jmd2.12168] [Reference Citation Analysis]
91 Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ; CONNECT MetabERN Collaboration Group. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. J Inherit Metab Dis 2021;44:1124-35. [PMID: 33844307 DOI: 10.1002/jimd.12386] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
92 Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. Eur J Med Genet 2020;63:103767. [PMID: 31536830 DOI: 10.1016/j.ejmg.2019.103767] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 2.5] [Reference Citation Analysis]
93 Kishnani PS, Sun B, Koeberl DD. Gene therapy for glycogen storage diseases. Hum Mol Genet 2019;28:R31-41. [PMID: 31227835 DOI: 10.1093/hmg/ddz133] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
94 Prasad N, Hamosh A, Sponseller P. Orthopaedic Manifestations of Inborn Errors of Metabolism. JBJS Rev 2021;9. [PMID: 34257233 DOI: 10.2106/JBJS.RVW.20.00245] [Reference Citation Analysis]
95 Bhattacharya K. Investigation and management of the hepatic glycogen storage diseases. Transl Pediatr 2015;4:240-8. [PMID: 26835382 DOI: 10.3978/j.issn.2224-4336.2015.04.07] [Cited by in F6Publishing: 6] [Reference Citation Analysis]
96 Gjorgjieva M, Calderaro J, Monteillet L, Silva M, Raffin M, Brevet M, Romestaing C, Roussel D, Zucman-Rossi J, Mithieux G, Rajas F. Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia. J Hepatol 2018;69:1074-87. [PMID: 30193922 DOI: 10.1016/j.jhep.2018.07.017] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 5.7] [Reference Citation Analysis]
97 Ahmed S, Afroze B. Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing. Pak J Med Sci 2020;36:290-2. [PMID: 32063977 DOI: 10.12669/pjms.36.2.1310] [Reference Citation Analysis]
98 Tokuhara D. Role of the Gut Microbiota in Regulating Non-alcoholic Fatty Liver Disease in Children and Adolescents. Front Nutr 2021;8:700058. [PMID: 34250000 DOI: 10.3389/fnut.2021.700058] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
99 Szymańska E, Lipiński P, Rokicki D, Książyk J, Tylki-Szymańska A. Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience. Diagnostics (Basel) 2020;10:E297. [PMID: 32414085 DOI: 10.3390/diagnostics10050297] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
100 Prasad R, Estrella J, Christodoulou J, McKellar G, Tchan MC. A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy. JIMD Rep 2018;42:5-8. [PMID: 29119402 DOI: 10.1007/8904_2017_67] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
101 Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? J Inherit Metab Dis 2018;41:985-95. [DOI: 10.1007/s10545-018-0149-4] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
102 Ross KM, Brown LM, Corrado MM, Chengsupanimit T, Curry LM, Ferrecchia IA, Porras LY, Mathew JT, Weinstein DA. Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. JIMD Rep 2016;26:85-90. [PMID: 26303612 DOI: 10.1007/8904_2015_488] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 2.5] [Reference Citation Analysis]
103 Sieloff EM, Rutledge B, Huffman C, Vos D, Melgar T. National trends and outcomes of genetically inherited non-alcoholic chronic liver disease in the USA: estimates from the National Inpatient Sample (NIS) database. Gastroenterol Rep (Oxf) 2021;9:38-48. [PMID: 33747525 DOI: 10.1093/gastro/goaa091] [Reference Citation Analysis]
104 Gautam S, Zhang L, Arnaoutova I, Lee C, Mansfield BC, Chou JY. The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia. Hum Mol Genet 2020;29:834-44. [PMID: 31961433 DOI: 10.1093/hmg/ddaa007] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
105 Okechuku GO, Shoemaker LR, Dambska M, Brown LM, Mathew J, Weinstein DA. Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy. J Inherit Metab Dis 2017;40:703-8. [PMID: 28612263 DOI: 10.1007/s10545-017-0054-2] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 3.8] [Reference Citation Analysis]
106 Rajas F, Gautier-Stein A, Mithieux G. Glucose-6 Phosphate, A Central Hub for Liver Carbohydrate Metabolism. Metabolites 2019;9:E282. [PMID: 31756997 DOI: 10.3390/metabo9120282] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
107 Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. J Inherit Metab Dis 2017;40:695-702. [PMID: 28397058 DOI: 10.1007/s10545-017-0039-1] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
108 Boyer SW, Barclay LJ, Burrage LC. Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutr Clin Pract 2015;30:502-10. [PMID: 26079521 DOI: 10.1177/0884533615586201] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 3.2] [Reference Citation Analysis]
109 Takao MMV, Sandy NS, Riccetto AGL, Tommaso AMA. LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE. Arq Gastroenterol 2021;58:87-92. [PMID: 33909803 DOI: 10.1590/S0004-2803.202100000-15] [Reference Citation Analysis]
110 Kanungo S, Wells K, Tribett T, El-Gharbawy A. Glycogen metabolism and glycogen storage disorders. Ann Transl Med 2018;6:474. [PMID: 30740405 DOI: 10.21037/atm.2018.10.59] [Cited by in Crossref: 39] [Cited by in F6Publishing: 22] [Article Influence: 13.0] [Reference Citation Analysis]
111 Drachmann D, Hoffmann E, Carrigg A, Davis-Yates B, Weaver V, Thornton P, Weinstein DA, Petersen JS, Shah P, Christesen HT. Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International. Orphanet J Rare Dis 2021;16:173. [PMID: 33849624 DOI: 10.1186/s13023-021-01797-2] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
112 Wicker C, Roda C, Perry A, Arnoux JB, Brassier A, Castelle M, Servais A, Donadieu J, Bouchereau J, Pigneur B, Labrune P, Ruemmele FM, de Lonlay P. Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort. Mol Genet Metab Rep. 2020;23:100581. [PMID: 32300528 DOI: 10.1016/j.ymgmr.2020.100581] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
113 Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. Gene 2019;703:17-25. [DOI: 10.1016/j.gene.2019.04.002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
114 Eghbali M, Fatemi KS, Salehpour S, Abiri M, Saei H, Talebi S, Olyaei NA, Yassaee VR, Modarressi MH. Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome. Front Genet 2020;11:601566. [PMID: 33505429 DOI: 10.3389/fgene.2020.601566] [Reference Citation Analysis]
115 Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q. Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. Hereditas 2018;155:32. [PMID: 30279644 DOI: 10.1186/s41065-018-0069-1] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 8.0] [Reference Citation Analysis]
116 Dambska M, Labrador EB, Kuo CL, Weinstein DA. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes 2017;18:327-31. [PMID: 28568353 DOI: 10.1111/pedi.12540] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 5.0] [Reference Citation Analysis]