| 1 |
IJzermans T, van der Meijden W, Hoeks M, Huigen M, Rennings A, Nijenhuis T. Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance. Am J Kidney Dis 2023;81:493-6. [PMID: 36223829 DOI: 10.1053/j.ajkd.2022.08.019] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 2 |
Akyol Ş, Yılmaz Ş, Tüfekçi Ö, Arslan N, Ören H. A complication of lysinuric protein intolerance: Intermittent haemophagocytic lymphohistiocytosis. J Paediatr Child Health 2022;58:2300-1. [PMID: 35938785 DOI: 10.1111/jpc.16158] [Reference Citation Analysis]
|
| 3 |
Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O. Manifestations pulmonaires des maladies héréditaires du métabolisme. Revue des Maladies Respiratoires 2022. [DOI: 10.1016/j.rmr.2022.09.002] [Reference Citation Analysis]
|
| 4 |
Hashmi SB, Ahmed S. Children with lysinuric protein intolerance: Experience from a lower middle income country. World J Clin Pediatr 2022; 11(4): 369-374 [DOI: 10.5409/wjcp.v11.i4.369] [Reference Citation Analysis]
|
| 5 |
Buch A, Ganz T, Wainstein J, Gilad S, Limor R, Shefer G, Boaz M, Stern N. Alcohol Drinks Induce Acute Lowering in Circulating l-Arginine in Obese and Type 2 Diabetic Subjects. J Med Food 2022;25:675-82. [PMID: 35708634 DOI: 10.1089/jmf.2021.0045] [Reference Citation Analysis]
|
| 6 |
Oncel I, Yousefi M, Inci A, Arslan Gulten Z, Teke Kisa P, Karaca M, Ünal Ö, Gündüz M, Kor D, Onenli Mungan N, Arslan N, Tumer L, Gucuyener K, Vural A, Anlar B. Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia. Medical Hypotheses 2022. [DOI: 10.1016/j.mehy.2022.110781] [Reference Citation Analysis]
|
| 7 |
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-vici C. The diagnostic challenge of mild citrulline elevation at newborn screening. Molecular Genetics and Metabolism 2022. [DOI: 10.1016/j.ymgme.2022.02.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 8 |
Xu WJ, Guo K, Shi JL, Guo CT, Xu JL, Zheng R, Jiang SW, Chai J. Glucocorticoid Regulates the Synthesis of Porcine Muscle Protein through m6A Modified Amino Acid Transporter SLC7A7. Int J Mol Sci 2022;23:661. [PMID: 35054897 DOI: 10.3390/ijms23020661] [Reference Citation Analysis]
|
| 9 |
Taslimifar M, Faltys M, Kurtcuoglu V, Verrey F, Makrides V. Analysis of L-leucine amino acid transporter species activity and gene expression by human blood brain barrier hCMEC/D3 model reveal potential LAT1, LAT4, B(0)AT2 and y(+)LAT1 functional cooperation. J Cereb Blood Flow Metab 2022;42:90-103. [PMID: 34427144 DOI: 10.1177/0271678X211039593] [Reference Citation Analysis]
|
| 10 |
Watson WT. Hereditary/metabolic food disorders. Reference Module in Food Science 2022. [DOI: 10.1016/b978-0-323-96018-2.00012-2] [Reference Citation Analysis]
|
| 11 |
Niinikoski H, Schiff M, Tanner L. Disorders of Amino Acid Transport at the Cell Membrane. Inborn Metabolic Diseases 2022. [DOI: 10.1007/978-3-662-63123-2_25] [Reference Citation Analysis]
|
| 12 |
Akkol EK, Aschner M. An overview on metabolic disorders and current therapy. The Role of Phytonutrients in Metabolic Disorders 2022. [DOI: 10.1016/b978-0-12-824356-5.00004-7] [Reference Citation Analysis]
|
| 13 |
Trzeciak A, Wang YT, Perry JSA. First we eat, then we do everything else: The dynamic metabolic regulation of efferocytosis. Cell Metab 2021;33:2126-41. [PMID: 34433074 DOI: 10.1016/j.cmet.2021.08.001] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 5.5] [Reference Citation Analysis]
|
| 14 |
Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet 2020;29:2171-84. [PMID: 32504080 DOI: 10.1093/hmg/ddaa107] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
|
| 15 |
Giroud-gerbetant J, Sotillo F, Couso J, Zorzano A, Sanchez M, Weiss G, Palacín M, Bodoy S. Erythropoietin supplementation ameliorates the immunological and hematological deficiencies of lysinuric protein intolerance in mice.. [DOI: 10.1101/2021.08.15.456393] [Reference Citation Analysis]
|
| 16 |
Avci Durmusalioglu E, Isik E, Ayyildiz Emecen D, Goksen D, Ozen S, Onay H, Kose M, Atik T, Darcan S, Cogulu O, Ozkinay F. The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis. J Pediatr Endocrinol Metab 2021;34:957-60. [PMID: 33823103 DOI: 10.1515/jpem-2021-0018] [Reference Citation Analysis]
|
| 17 |
Gropman A, Arnold G, Vockley J. Disorders of Metabolism of Amino Acids and Related Compounds. Genetic Disorders and the Fetus 2021. [DOI: 10.1002/9781119676980.ch22] [Reference Citation Analysis]
|
| 18 |
Di Giorgio A, Bartolini E, Calvo PL, Cananzi M, Cirillo F, Della Corte C, Dionisi-Vici C, Indolfi G, Iorio R, Maggiore G, Mandato C, Nebbia G, Nicastro E, Pinon M, Ranucci G, Sciveres M, Vajro P, D'Antiga L. Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group. Dig Liver Dis 2021;53:545-57. [PMID: 33775575 DOI: 10.1016/j.dld.2021.03.004] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
|
| 19 |
Al-Qattan S, Malcolmson C, Mercimek-Andrews S. Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy. Mol Genet Metab Rep 2021;27:100741. [PMID: 33763330 DOI: 10.1016/j.ymgmr.2021.100741] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 20 |
Pacheco SE, Stark JM. Pulmonary Manifestations of Immunodeficiency and Immunosuppressive Diseases Other than Human Immunodeficiency Virus. Pediatr Clin North Am 2021;68:103-30. [PMID: 33228927 DOI: 10.1016/j.pcl.2020.09.004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 21 |
Ediger TR, Erdman SH. Maldigestion and Malabsorption. Pediatric Gastrointestinal and Liver Disease 2021. [DOI: 10.1016/b978-0-323-67293-1.00031-1] [Reference Citation Analysis]
|
| 22 |
Contreras JL, Ladino MA, Aránguiz K, Mendez GP, Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Poli MC. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr 2021;9:673957. [PMID: 34095032 DOI: 10.3389/fped.2021.673957] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
|
| 23 |
Demy DL, Carrère M, Noche R, Tauzin M, Le Bris M, Baek C, Leshchiner I, Goessling W, Herbomel P. The cationic amino acid exporter Slc7a7 is induced and vital in zebrafish tissue macrophages with sustained efferocytic activity. J Cell Sci 2020;133:jcs249037. [PMID: 32973110 DOI: 10.1242/jcs.249037] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 24 |
Olgac A, Yenicesu I, Ozgul RK, Biberoğlu G, Tümer L. Lysinuric protein intolerance: an overlooked diagnosis. Egypt J Med Hum Genet 2020;21. [DOI: 10.1186/s43042-020-00084-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 25 |
Md AN. Neonatal Presentations of Metabolic Disorders. NeoReviews 2020;21:e649-e662. [DOI: 10.1542/neo.21-10-e649] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 26 |
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR. Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Transl Sci Rare Dis 2020;5:81-6. [PMID: 33134088 DOI: 10.3233/TRD-190035] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 27 |
Demy DL, Carrère M, Noche R, Tauzin M, Le Bris M, Baek C, Yousfi M, Leshchiner I, Goessling W, Herbomel P. The cationic amino acid exporter Slc7a7 is vital for and induced in tissue macrophages with sustained efferocytic activity.. [DOI: 10.1101/2020.04.20.051664] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
|
| 28 |
Martinelli D, Schiff M, Semeraro M, Agolini E, Novelli A, Dionisi-Vici C. CUGC for lysinuric protein intolerance (LPI). Eur J Hum Genet 2020;28:1129-34. [PMID: 32249831 DOI: 10.1038/s41431-020-0617-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 29 |
Ganetzky RD, Goldstein AC. Metabolic disorders with immunologic consequences. Stiehm's Immune Deficiencies 2020. [DOI: 10.1016/b978-0-12-816768-7.00012-0] [Reference Citation Analysis]
|
| 30 |
Rossignol F, Ah Mew N, Meltzer MR, Gropman AL. Urea cycle disorders. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 2020. [DOI: 10.1016/b978-0-12-813955-4.00061-1] [Reference Citation Analysis]
|
| 31 |
Spagnolo P, Miedema JR, von der Thüsen JH, Wijsenbeek MS. Trafficking and lysosomal storage disorders. Pulmonary Manifestations of Systemic Diseases 2019. [DOI: 10.1183/2312508x.10015419] [Reference Citation Analysis]
|
| 32 |
Rotoli BM, Barilli A, Visigalli R, Ferrari F, Dall'Asta V. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance. J Cell Mol Med 2020;24:921-9. [PMID: 31705628 DOI: 10.1111/jcmm.14801] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 4.8] [Reference Citation Analysis]
|
| 33 |
Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal A, Zorzano A, Sebastio G, Artuch R, Palacín M. Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease. Int J Mol Sci 2019;20:E5294. [PMID: 31653080 DOI: 10.3390/ijms20215294] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 3.5] [Reference Citation Analysis]
|
| 34 |
Noguchi A, Takahashi T. Overview of symptoms and treatment for lysinuric protein intolerance. J Hum Genet 2019;64:849-58. [PMID: 31213652 DOI: 10.1038/s10038-019-0620-6] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 4.3] [Reference Citation Analysis]
|
| 35 |
Rotoli BM, Barilli A, Ingoglia F, Visigalli R, Bianchi MG, Ferrari F, Martinelli D, Dionisi-Vici C, Dall'Asta V. Analysis of LPI-causing mutations on y+LAT1 function and localization. Orphanet J Rare Dis 2019;14:63. [PMID: 30832686 DOI: 10.1186/s13023-019-1028-2] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
|
| 36 |
Zelikovic I. Hereditary Tubulopathies. Nephrology and Fluid/electrolyte Physiology 2019. [DOI: 10.1016/b978-0-323-53367-6.00019-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 37 |
Karageorgos S, Bassiri H. Genetics of Primary Hemophagocytic Lymphohistiocytosis. Cytokine Storm Syndrome 2019. [DOI: 10.1007/978-3-030-22094-5_6] [Reference Citation Analysis]
|
| 38 |
Guerrero RB, Salazar D, Tanpaiboon P. Laboratory diagnostic approaches in metabolic disorders. Ann Transl Med 2018;6:470. [PMID: 30740401 DOI: 10.21037/atm.2018.11.05] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 4.0] [Reference Citation Analysis]
|
| 39 |
Vilches C, Boiadjieva-Knöpfel E, Bodoy S, Camargo S, López de Heredia M, Prat E, Ormazabal A, Artuch R, Zorzano A, Verrey F, Nunes V, Palacín M. Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids. J Am Soc Nephrol 2018;29:1624-35. [PMID: 29610403 DOI: 10.1681/ASN.2017111205] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 4.2] [Reference Citation Analysis]
|
| 40 |
Rotoli BM, Barilli A, Visigalli R, Ingoglia F, Milioli M, Di Lascia M, Riccardi B, Puccini P, Dall'Asta V. Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells. Front Immunol 2018;9:508. [PMID: 29616026 DOI: 10.3389/fimmu.2018.00508] [Cited by in Crossref: 21] [Cited by in F6Publishing: 22] [Article Influence: 4.2] [Reference Citation Analysis]
|
| 41 |
Schmid JP, Volkmer B, Ehl S. Classification, Clinical Manifestations, and Diagnostics of HLH. Histiocytic Disorders 2018. [DOI: 10.1007/978-3-319-59632-7_9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 42 |
Vara R, Durward A. Hyperammonaemia and IEM. Critical Care Nephrology and Renal Replacement Therapy in Children 2018. [DOI: 10.1007/978-3-319-90281-4_27] [Reference Citation Analysis]
|
| 43 |
Maines E, Piccoli G, Pascarella A, Colucci F, Burlina AB. Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis. Expert Opinion on Orphan Drugs 2018;6:105-16. [DOI: 10.1080/21678707.2018.1409108] [Reference Citation Analysis]
|
| 44 |
Ouederni M, Ben Khaled M, Rekaya S, Ben Fraj I, Mellouli F, Bejaoui M. A nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis. Mediterr J Hematol Infect Dis 2017;9:e2017057. [PMID: 29181134 DOI: 10.4084/MJHID.2017.057] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 45 |
Bijarnia-Mahay S, Jain V, Bansal RK, Reddy GM, Haberle J. Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. Indian Pediatr 2016;53:732-4. [PMID: 27567650 DOI: 10.1007/s13312-016-0920-2] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 46 |
Estève E, Krug P, Hummel A, Arnoux JB, Boyer O, Brassier A, de Lonlay P, Vuiblet V, Gobin S, Salomon R, Piètrement C, Bonnefont JP, Servais A, Galmiche L. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions. Hum Pathol 2017;62:160-9. [PMID: 28087478 DOI: 10.1016/j.humpath.2016.12.021] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
|
| 47 |
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis 2017;12:3. [PMID: 28057010 DOI: 10.1186/s13023-016-0550-8] [Cited by in Crossref: 57] [Cited by in F6Publishing: 59] [Article Influence: 9.5] [Reference Citation Analysis]
|
| 48 |
Moinard C, Breuillard C, Charrueau C. l-Arginine Metabolism Impairment in Sepsis and Diseases: Causes and Consequences. L-Arginine in Clinical Nutrition 2017. [DOI: 10.1007/978-3-319-26009-9_12] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 49 |
Other Inborn Errors of Amino Acid Metabolism. Progressive Brain Disorders in Childhood 2017. [DOI: 10.1017/9781107323704.026] [Reference Citation Analysis]
|
| 50 |
Tanner LM, Kurko J, Tringham M, Aho H, Mykkänen J, Näntö-Salonen K, Niinikoski H, Lukkarinen H. Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance. JIMD Rep 2017;34:97-104. [PMID: 27783330 DOI: 10.1007/8904_2016_15] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 51 |
Ganz T, Wainstein J, Gilad S, Limor R, Boaz M, Stern N. Serum asymmetric dimethylarginine and arginine levels predict microvascular and macrovascular complications in type 2 diabetes mellitus. Diabetes Metab Res Rev. 2017;33. [PMID: 27393712 DOI: 10.1002/dmrr.2836] [Cited by in Crossref: 25] [Cited by in F6Publishing: 29] [Article Influence: 3.6] [Reference Citation Analysis]
|
| 52 |
Wołowiec M, Malinowska I. Limfohistiocytoza hemofagocytarna u dzieci. Acta Haematologica Polonica 2016;47:233-241. [DOI: 10.1016/j.achaem.2016.10.001] [Reference Citation Analysis]
|
| 53 |
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Clinical and genetic features of lysinuric protein intolerance in Japan. Pediatr Int 2016;58:979-83. [PMID: 26865117 DOI: 10.1111/ped.12946] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
|
| 54 |
Kurko J, Tringham M, Tanner L, Näntö-salonen K, Vähä-mäkilä M, Nygren H, Pöhö P, Lietzen N, Mattila I, Olkku A, Hyötyläinen T, Orešič M, Simell O, Niinikoski H, Mykkänen J. Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). Metabolism 2016;65:1361-75. [DOI: 10.1016/j.metabol.2016.05.012] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.3] [Reference Citation Analysis]
|
| 55 |
Taylor P. Role of Amino Acid Transporters in Protein Metabolism. The Molecular Nutrition of Amino Acids and Proteins 2016. [DOI: 10.1016/b978-0-12-802167-5.00005-0] [Reference Citation Analysis]
|
| 56 |
Näntö-salonen K, Schiff M, Niinikoski H. Disorders of Amino Acid Transport at the Cell Membrane. Inborn Metabolic Diseases 2016. [DOI: 10.1007/978-3-662-49771-5_25] [Reference Citation Analysis]
|
| 57 |
Dalal SR, Chang EB. Disorders of Epithelial Transport, Metabolism, and Digestion in the Small Intestine. Yamada' s Textbook of Gastroenterology 2015. [DOI: 10.1002/9781118512074.ch65] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 58 |
Nicolas C, Bednarek N, Vuiblet V, Boyer O, Brassier A, De Lonlay P, Galmiche L, Krug P, Baudouin V, Pichard S, Schiff M, Pietrement C. Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. JIMD Rep 2016;29:11-7. [PMID: 26608393 DOI: 10.1007/8904_2015_509] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.5] [Reference Citation Analysis]
|
| 59 |
Arnold GL, Vockley J. Disorders of Metabolism of Amino Acids and Related Compounds. Genetic Disorders and the Fetus 2015. [DOI: 10.1002/9781118981559.ch23] [Reference Citation Analysis]
|
| 60 |
Kurko J, Vähä-Mäkilä M, Tringham M, Tanner L, Paavanen-Huhtala S, Saarinen M, Näntö-Salonen K, Simell O, Niinikoski H, Mykkänen J. Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport. Mol Immunol 2015;67:416-25. [PMID: 26210182 DOI: 10.1016/j.molimm.2015.07.006] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 2.3] [Reference Citation Analysis]
|
| 61 |
Kärki M, Näntö-Salonen K, Niinikoski H, Tanner LM. Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. JIMD Rep 2016;25:47-55. [PMID: 26122628 DOI: 10.1007/8904_2015_465] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 62 |
Ghosh A, Morris A. Inherited disorders leading to hyperammonemia in children. Current Approach to Hyperammonemia 2015. [DOI: 10.2217/fmeb2013.13.286] [Reference Citation Analysis]
|
| 63 |
Evelina M, Grazia M, Francesca O, Marta C, Paolo C, Rossella G, Franco A, Andrea B. Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. JIMD Rep 2015;19:35-41. [PMID: 25614305 DOI: 10.1007/8904_2014_362] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 64 |
Mew NA, Pappa MB, Gropman AL. Urea Cycle Disorders. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 2015. [DOI: 10.1016/b978-0-12-410529-4.00057-7] [Cited by in Crossref: 8] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 65 |
Valimahamed-mitha S, Berteloot L, Ducoin H, Ottolenghi C, de Lonlay P, de Blic J. Lung involvement in children with lysinuric protein intolerance. J Inherit Metab Dis 2015;38:257-63. [DOI: 10.1007/s10545-014-9777-5] [Cited by in Crossref: 24] [Cited by in F6Publishing: 26] [Article Influence: 2.7] [Reference Citation Analysis]
|
| 66 |
Drug monographs. Neonatal Formulary 7 2014. [DOI: 10.1002/9781118819494.ch15] [Reference Citation Analysis]
|
| 67 |
Parvaneh N, Quartier P, Rostami P, Casanova JL, de Lonlay P. Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol 2014;34:753-71. [PMID: 25081841 DOI: 10.1007/s10875-014-0076-6] [Cited by in Crossref: 21] [Cited by in F6Publishing: 22] [Article Influence: 2.3] [Reference Citation Analysis]
|
| 68 |
Danoff SK, Johnson C. The Genetics of Pulmonary Fibrosis. Idiopathic Pulmonary Fibrosis 2014. [DOI: 10.1007/978-1-62703-682-5_9] [Reference Citation Analysis]
|
| 69 |
Guillerman RP. Diffuse Lung Disease. Pediatric Chest Imaging 2014. [DOI: 10.1007/174_2014_1021] [Reference Citation Analysis]
|
| 70 |
Cooper AJ, Kuhara T. α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycle. Metab Brain Dis 2014;29:991-1006. [PMID: 24234505 DOI: 10.1007/s11011-013-9444-9] [Cited by in Crossref: 31] [Cited by in F6Publishing: 27] [Article Influence: 3.1] [Reference Citation Analysis]
|
| 71 |
Maines E, Comberiati P, Piacentini GL, Boner AL, Peroni DG. Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. Pediatr Allergy Immunol 2013;24:509-10. [PMID: 23772603 DOI: 10.1111/pai.12096] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 0.8] [Reference Citation Analysis]
|
| 72 |
Güzel-ozantürk A, Özgül RK, Ünal Ö, Hişmi B, Aydın Hİ, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. Gene 2013;521:293-5. [DOI: 10.1016/j.gene.2013.03.033] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 73 |
Häberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys. 2013;536:101-108. [PMID: 23628343 DOI: 10.1016/j.abb.2013.04.009] [Cited by in Crossref: 66] [Cited by in F6Publishing: 73] [Article Influence: 6.6] [Reference Citation Analysis]
|
| 74 |
Poncet N, Taylor PM. The role of amino acid transporters in nutrition. Curr Opin Clin Nutr Metab Care 2013;16:57-65. [PMID: 23196813 DOI: 10.1097/MCO.0b013e32835a885c] [Cited by in Crossref: 61] [Cited by in F6Publishing: 60] [Article Influence: 6.1] [Reference Citation Analysis]
|
| 75 |
Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J. Two novel deletions in hypotonia-cystinuria syndrome. Mol Genet Metab 2012;107:614-6. [PMID: 22796000 DOI: 10.1016/j.ymgme.2012.06.011] [Cited by in Crossref: 12] [Cited by in F6Publishing: 14] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 76 |
Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-vici C. Creatine metabolism in urea cycle defects. J Inherit Metab Dis 2012;35:647-53. [DOI: 10.1007/s10545-012-9494-x] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 1.6] [Reference Citation Analysis]
|
