| 1 |
Fakoya AOJ, Lanipekun CO, Tarzian M. Dibasic Aminoaciduria II. Genetic Syndromes 2023. [DOI: 10.1007/978-3-319-66816-1_1736-1] [Reference Citation Analysis]
|
| 2 |
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 2022:S0272-6386(22)00931-3. [PMID: 36223829 DOI: 10.1053/j.ajkd.2022.08.019] [Reference Citation Analysis]
|
| 3 |
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]
|
| 4 |
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]
|
| 5 |
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]
|
| 6 |
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]
|
| 7 |
Broomfield A, Kenth J, Bruce IA, Tan HL, Wilkinson S. Respiratory complications of metabolic disease in the paediatric population: A review of presentation, diagnosis and therapeutic options. Paediatr Respir Rev 2019;32:55-65. [PMID: 31101546 DOI: 10.1016/j.prrv.2019.04.004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 8 |
Gopalakrishnan C, Al-Subaie AM, N N, Yeh HY, Tayubi IA, Kamaraj B. Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies. J Cell Biochem 2019;120:18496-508. [PMID: 31211457 DOI: 10.1002/jcb.29172] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
|
| 9 |
Langeveld M, Hollak CEM. Bone health in patients with inborn errors of metabolism. Rev Endocr Metab Disord 2018;19:81-92. [PMID: 30209646 DOI: 10.1007/s11154-018-9460-5] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
|
| 10 |
Bröer S, Fairweather SJ. Amino Acid Transport Across the Mammalian Intestine. Compr Physiol 2018;9:343-73. [PMID: 30549024 DOI: 10.1002/cphy.c170041] [Cited by in Crossref: 67] [Cited by in F6Publishing: 70] [Article Influence: 13.4] [Reference Citation Analysis]
|
| 11 |
Pitkänen HH, Kärki M, Niinikoski H, Tanner L, Näntö-Salonen K, Pikta M, Kopatz WF, Zuurveld M, Meijers JCM, Brinkman HJM, Lassila R. Abnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment. Haemophilia 2018;24:e312-21. [PMID: 30070418 DOI: 10.1111/hae.13543] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
|
| 12 |
Devuyst O, Igarashi T. Renal Fanconi Syndrome, Dent Disease, and Bartter Syndrome. Genetics of Bone Biology and Skeletal Disease. Elsevier; 2018. pp. 783-99. [DOI: 10.1016/b978-0-12-804182-6.00041-1] [Cited by in Crossref: 2] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 13 |
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]
|
| 14 |
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]
|
| 15 |
Carpentieri D, Barnhart MF, Aleck K, Miloh T, deMello D. Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature. Mol Genet Metab Rep 2015;2:47-50. [PMID: 28649527 DOI: 10.1016/j.ymgmr.2014.12.005] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 16 |
Spagnolo P. Rare Diffuse Lung Diseases of Genetic Origin. Orphan Lung Diseases 2015. [DOI: 10.1007/978-1-4471-2401-6_36] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 17 |
Habib A, Md Yunus Z, Azize NA, Ch'ng GS, Ong WP, Chen BC, Hsu HT, Wong KJ, Pitt J, Ngu LH. Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. Eur J Pediatr 2013;172:1277-81. [PMID: 23358709 DOI: 10.1007/s00431-013-1947-1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.6] [Reference Citation Analysis]
|
| 18 |
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-vici C, Martinelli D, Goffredo BM, Font-llitjós M, Mariani F, Luisetti M, Dall'asta V. Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. Molecular Genetics and Metabolism 2012;105:585-9. [DOI: 10.1016/j.ymgme.2012.01.008] [Cited by in Crossref: 29] [Cited by in F6Publishing: 29] [Article Influence: 2.6] [Reference Citation Analysis]
|
| 19 |
Lichter-konecki U, Batshaw ML. Inborn Errors of Urea Synthesis. Swaiman's Pediatric Neurology 2012. [DOI: 10.1016/b978-1-4377-0435-8.00033-0] [Reference Citation Analysis]
|
| 20 |
Näntö-salonen K, Niinikoski H, Simell OG. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder. Inborn Metabolic Diseases 2012. [DOI: 10.1007/978-3-642-15720-2_26] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 21 |
Shinawi M, Dietzen DJ, White FV, Sprietsma L, Weymann A. Early-onset hepatic fibrosis in lysinuric protein intolerance. J Pediatr Gastroenterol Nutr 2011;53:695-8. [PMID: 21716135 DOI: 10.1097/MPG.0b013e318227b02d] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 22 |
Niinikoski H, Lapatto R, Nuutinen M, Tanner L, Simell O, Näntö-Salonen K. Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. JIMD Rep 2011;1:43-7. [PMID: 23430827 DOI: 10.1007/8904_2011_15] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 23 |
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Dall'Asta V. Arginine transport in human monocytic leukemia THP-1 cells during macrophage differentiation. J Leukoc Biol 2011;90:293-303. [PMID: 21586674 DOI: 10.1189/jlb.0910510] [Cited by in Crossref: 32] [Cited by in F6Publishing: 33] [Article Influence: 2.7] [Reference Citation Analysis]
|
| 24 |
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Kadija Z, Rodi G, Mariani F, Ruzza ML, Luisetti M, Dall'Asta V. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Orphanet J Rare Dis 2010;5:32. [PMID: 21110863 DOI: 10.1186/1750-1172-5-32] [Cited by in Crossref: 42] [Cited by in F6Publishing: 45] [Article Influence: 3.2] [Reference Citation Analysis]
|
| 25 |
Boyd C, Shennan D. Breast milk and gene delivery: Is lysinuric protein intolerance an exemplar? Molecular Genetics and Metabolism 2010;101:296. [DOI: 10.1016/j.ymgme.2010.07.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 26 |
Berthoux É, Durieu I, Guffon N, Sivova N, Gamondes D, Cordier J, Cottin V. Atteinte pulmonaire inhabituelle au cours d’une intolérance aux protéines avec lysinurie. Revue des Maladies Respiratoires 2010;27:770-774. [DOI: 10.1016/j.rmr.2010.06.022] [Reference Citation Analysis]
|
| 27 |
Tanner LM, Niinikoski H, Näntö-salonen K, Simell O. Combined hyperlipidemia in patients with lysinuric protein intolerance. J Inherit Metab Dis 2010;33:145-50. [DOI: 10.1007/s10545-010-9050-5] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 28 |
Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr 2008;97:1412-9. [PMID: 18616627 DOI: 10.1111/j.1651-2227.2008.00923.x] [Cited by in Crossref: 40] [Cited by in F6Publishing: 45] [Article Influence: 2.7] [Reference Citation Analysis]
|
| 29 |
Richard GI, Marwani HM, Jiang S, Fakayode SO, Lowry M, Strongin RM, Warner IM. Chiral recognition of amino acids by use of a fluorescent resorcinarene. Appl Spectrosc 2008;62:476-80. [PMID: 18498687 DOI: 10.1366/000370208784344514] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 0.9] [Reference Citation Analysis]
|
| 30 |
Tanner LM, Näntö-salonen K, Rashed MS, Kotilainen S, Aalto M, Venetoklis J, Niinikoski H, Huoponen K, Simell O. Carnitine deficiency and l-carnitine supplementation in lysinuric protein intolerance. Metabolism 2008;57:549-54. [DOI: 10.1016/j.metabol.2007.11.019] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 0.9] [Reference Citation Analysis]
|
| 31 |
Bröer S. Amino acid transport across mammalian intestinal and renal epithelia. Physiol Rev 2008;88:249-86. [PMID: 18195088 DOI: 10.1152/physrev.00018.2006] [Cited by in Crossref: 660] [Cited by in F6Publishing: 678] [Article Influence: 44.0] [Reference Citation Analysis]
|
| 32 |
Bröer S. Lysinuric protein intolerance: one gene, many problems. American Journal of Physiology-Cell Physiology 2007;293:C540-1. [DOI: 10.1152/ajpcell.00166.2007] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 1.6] [Reference Citation Analysis]
|
| 33 |
Tanner LM, Näntö-Salonen K, Venetoklis J, Kotilainen S, Niinikoski H, Huoponen K, Simell O. Nutrient intake in lysinuric protein intolerance. J Inherit Metab Dis 2007;30:716-21. [PMID: 17588131 DOI: 10.1007/s10545-007-0558-2] [Cited by in Crossref: 26] [Cited by in F6Publishing: 27] [Article Influence: 1.6] [Reference Citation Analysis]
|
| 34 |
Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr 2007;137:1656S-61S. [PMID: 17513443 DOI: 10.1093/jn/137.6.1656S] [Cited by in Crossref: 47] [Cited by in F6Publishing: 49] [Article Influence: 2.9] [Reference Citation Analysis]
|
| 35 |
Tanner LM, Näntö-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helanterä A, Metso M, Linnanvuo M, Huoponen K, Simell O. Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. J Pediatr 2007;150:631-4, 634.e1. [PMID: 17517249 DOI: 10.1016/j.jpeds.2007.01.043] [Cited by in Crossref: 39] [Cited by in F6Publishing: 29] [Article Influence: 2.4] [Reference Citation Analysis]
|
| 36 |
Tanner LM, Näntö-Salonen K, Niinikoski H, Huoponen K, Simell O. Long-term oral lysine supplementation in lysinuric protein intolerance. Metabolism 2007;56:185-9. [PMID: 17224331 DOI: 10.1016/j.metabol.2006.09.011] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 37 |
Rexhepaj R, Grahammer F, Völkl H, Remy C, Wagner CA, Sandulache D, Artunc F, Henke G, Nammi S, Capasso G, Alessi DR, Lang F. Reduced intestinal and renal amino acid transport in PDK1 hypomorphic mice. FASEB J 2006;20:2214-22. [PMID: 17077298 DOI: 10.1096/fj.05-5676com] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 38 |
Tanner L, Näntö-salonen K, Niinikoski H, Erkkola R, Huoponen K, Simell O. Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. Metabolism 2006;55:224-31. [DOI: 10.1016/j.metabol.2005.08.016] [Cited by in Crossref: 19] [Cited by in F6Publishing: 21] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 39 |
Näntö-salonen K, Simell OG. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder. Inborn Metabolic Diseases 2006. [DOI: 10.1007/978-3-540-28785-8_26] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 40 |
Osada H, Seki K. Amino acid changes during successful pregnancy in a case of lysinuric protein insufficiency. Gynecol Obstet Invest 2006;61:139-41. [PMID: 16374016 DOI: 10.1159/000090410] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 41 |
Palacı́n M, Bertran J, Chillarón J, Estévez R, Zorzano A. Lysinuric protein intolerance: mechanisms of pathophysiology. Molecular Genetics and Metabolism 2004;81:27-37. [DOI: 10.1016/j.ymgme.2003.11.015] [Cited by in Crossref: 59] [Cited by in F6Publishing: 38] [Article Influence: 3.1] [Reference Citation Analysis]
|
| 42 |
Gibson JB, Berry GT. Pathophysiology of Metabolic Disease of the Liver. Fetal and Neonatal Physiology 2004. [DOI: 10.1016/b978-0-7216-9654-6.50126-0] [Reference Citation Analysis]
|
| 43 |
Koizumi A, Matsuura N, Inoue S, Utsunomiya M, Nozaki J, Inoue K, Takasago Y; Mass Screening Group. Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan. Genet Test 2003;7:29-35. [PMID: 12820699 DOI: 10.1089/109065703321560903] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 44 |
Lukkarinen M, Näntö-Salonen K, Pulkki K, Aalto M, Simell O. Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. Metabolism 2003;52:935-8. [PMID: 12870174 DOI: 10.1016/s0026-0495(03)00089-1] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 45 |
Norio R. The Finnish Disease Heritage III: the individual diseases. Hum Genet 2003;112:470-526. [PMID: 12627297 DOI: 10.1007/s00439-002-0877-1] [Cited by in Crossref: 68] [Cited by in F6Publishing: 70] [Article Influence: 3.4] [Reference Citation Analysis]
|
| 46 |
Chillarón J, Bertran J, Palacín M. Heteromeric amino acid transporters: cystinuria and lysinuric protein intolerance. Membrane Transporter Diseases 2003. [DOI: 10.1007/978-1-4419-9023-5_14] [Reference Citation Analysis]
|
| 47 |
Kauffman RP, Overton TH, Shiflett M, Jennings JC. Osteoporosis in children and adolescent girls: case report of idiopathic juvenile osteoporosis and review of the literature. Obstet Gynecol Surv 2001;56:492-504. [PMID: 11496161 DOI: 10.1097/00006254-200108000-00023] [Cited by in Crossref: 32] [Cited by in F6Publishing: 34] [Article Influence: 1.5] [Reference Citation Analysis]
|
| 48 |
Trivedi M, Zafar S, Spalding MJ, Jonnalagadda S. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. J Clin Gastroenterol 2001;32:340-3. [PMID: 11276280 DOI: 10.1097/00004836-200104000-00013] [Cited by in Crossref: 27] [Cited by in F6Publishing: 28] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 49 |
Ma KC. Alzheimer-type I astrogliopathy (AIA) and its implications for dynamic plasticity of astroglia: a historical review of the significance of AIA. J Neuropathol Exp Neurol 2001;60:121-31. [PMID: 11273000 DOI: 10.1093/jnen/60.2.121] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 50 |
Lukkarinen M, Näntö-Salonen K, Pulkki K, Mattila K, Simell O. Effect of lysine infusion on urea cycle in lysinuric protein intolerance. Metabolism 2000;49:621-5. [PMID: 10831173 DOI: 10.1016/s0026-0495(00)80038-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 51 |
Simell O, Parto K, Näntö-salonen K. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance. Inborn Metabolic Diseases 2000. [DOI: 10.1007/978-3-662-04285-4_23] [Reference Citation Analysis]
|
| 52 |
Kayanoki Y, Kawata S, Yamasaki E, Kiso S, Inoue S, Tamura S, Taniguchi N, Matsuzawa Y. Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. Metabolism 1999;48:1136-40. [PMID: 10484053 DOI: 10.1016/s0026-0495(99)90127-0] [Cited by in Crossref: 28] [Cited by in F6Publishing: 28] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 53 |
Lukkarinen M, Näntö-Salonen K, Ruuskanen O, Lauteala T, Säkö S, Nuutinen M, Simell O. Varicella and varicella immunity in patients with lysinuric protein intolerance. J Inherit Metab Dis 1998;21:103-11. [PMID: 9584261 DOI: 10.1023/a:1005335423939] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 54 |
Yoshida Y, Machigashira K, Suehara M, Arimura H, Moritoyo T, Nagamatsu K, Osame M. Immunological abnormality in patients with lysinuric protein intolerance. J Neurol Sci 1995;134:178-82. [PMID: 8747863 DOI: 10.1016/0022-510x(95)00237-1] [Cited by in Crossref: 23] [Cited by in F6Publishing: 24] [Article Influence: 0.8] [Reference Citation Analysis]
|
| 55 |
Pridmore CL, Clarke JT, Blaser S. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J Child Neurol 1995;10:369-74. [PMID: 7499756 DOI: 10.1177/088307389501000506] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 56 |
Takayama N, Hamada H, Kubo T. Lysinuric protein intolerance in pregnancy: case report with successful outcome. Arch Gynecol Obstet 1995;256:49-52. [PMID: 7726656 DOI: 10.1007/BF00634350] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 57 |
Simell O, Parto K. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance. Inborn Metabolic Diseases 1995. [DOI: 10.1007/978-3-662-03147-6_34] [Reference Citation Analysis]
|
| 58 |
Batshaw ML. Inborn errors of urea synthesis. Ann Neurol 1994;35:133-41. [PMID: 7906500 DOI: 10.1002/ana.410350204] [Cited by in Crossref: 60] [Cited by in F6Publishing: 63] [Article Influence: 2.1] [Reference Citation Analysis]
|
| 59 |
Parto K, Svedström E, Majurin ML, Härkönen R, Simell O. Pulmonary manifestations in lysinuric protein intolerance. Chest 1993;104:1176-82. [PMID: 8404187 DOI: 10.1378/chest.104.4.1176] [Cited by in Crossref: 71] [Cited by in F6Publishing: 73] [Article Influence: 2.4] [Reference Citation Analysis]
|
| 60 |
Kerem E, Elpelg ON, Shalev RS, Rosenman E, Bar Ziv Y, Branski D. Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset. J Pediatr 1993;123:275-8. [PMID: 8345427 DOI: 10.1016/s0022-3476(05)81703-2] [Cited by in Crossref: 24] [Cited by in F6Publishing: 24] [Article Influence: 0.8] [Reference Citation Analysis]
|
| 61 |
DiRocco M, Garibotto G, Rossi GA, Caruso U, Taccone A, Picco P, Borrone C. Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr 1993;152:437-40. [PMID: 8319714 DOI: 10.1007/BF01955906] [Cited by in Crossref: 48] [Cited by in F6Publishing: 45] [Article Influence: 1.6] [Reference Citation Analysis]
|
| 62 |
Parto K, Penttinen R, Paronen I, Pelliniemi L, Simell O. Osteoporosis in lysinuric protein intolerance. J Inherit Metab Dis 1993;16:441-50. [PMID: 8412005 DOI: 10.1007/BF00710296] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 1.1] [Reference Citation Analysis]
|
| 63 |
Scriver CR, Tenenhouse HS. Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate. Comprehensive Physiology 1992. [DOI: 10.1002/cphy.cp080242] [Reference Citation Analysis]
|
| 64 |
Burns SP, Woolf DA, Leonard JV, Iles RA. Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. Clin Chim Acta 1992;209:47-60. [PMID: 1395038 DOI: 10.1016/0009-8981(92)90332-k] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 1.0] [Reference Citation Analysis]
|
| 65 |
Parini R, Vegni M, Pontiggia M, Melotti D, Corbetta C, Rossi A, Piceni Sereni L. A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency. J Inherit Metab Dis 1991;14:833-4. [PMID: 1779632 DOI: 10.1007/BF01799959] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 66 |
Simell O. Lysinuric Protein Intolerance. Inborn Metabolic Diseases 1990. [DOI: 10.1007/978-3-662-02613-7_44] [Reference Citation Analysis]
|
| 67 |
Shaw PJ, Dale G, Bates D. Familial lysinuric protein intolerance presenting as coma in two adult siblings. J Neurol Neurosurg Psychiatry 1989;52:648-51. [PMID: 2732736 DOI: 10.1136/jnnp.52.5.648] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 68 |
Smith DW, Scriver CR, Simell O. Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. Hum Genet 1988;80:395-6. [PMID: 3143662 DOI: 10.1007/BF00273660] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 69 |
Harris DJ, Siegel C, Baska RE. Transient hyperammonaemia. J Inherit Metab Dis 1987;10:269. [PMID: 3123786 DOI: 10.1007/BF01800074] [Reference Citation Analysis]
|
| 70 |
. Lysinuric protein intolerance: a rare cause of childhood osteoporosis. Nutr Rev 1986;44:110-3. [PMID: 3083306 DOI: 10.1111/j.1753-4887.1986.tb07598.x] [Reference Citation Analysis]
|
| 71 |
Watson AJ, Chambers T, Karp JE, Risch VR, Walker WG, Brusilow SW. Transient idiopathic hyperammonaemia in adults. Lancet 1985;2:1271-4. [PMID: 2866337 DOI: 10.1016/s0140-6736(85)91554-5] [Cited by in Crossref: 62] [Cited by in F6Publishing: 64] [Article Influence: 1.6] [Reference Citation Analysis]
|
| 72 |
Batshaw ML. Hyperammonemia. Curr Probl Pediatr 1984;14:1-69. [PMID: 6510017 DOI: 10.1016/0045-9380(84)90047-1] [Cited by in Crossref: 33] [Cited by in F6Publishing: 39] [Article Influence: 0.8] [Reference Citation Analysis]
|
| 73 |
Goto I, Yoshimura T, Kuroiwa Y. Growth hormone studies in lysinuric protein intolerance. Eur J Pediatr 1984;141:240-2. [PMID: 6428892 DOI: 10.1007/BF00572769] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 74 |
O'Connor JE, Renau-Piqueras J, Grisolía S. Effects of urease-induced hyperammonemia in mouse liver. Ultrastructural, stereologic and biochemical study. Virchows Arch B Cell Pathol Incl Mol Pathol 1984;46:187-97. [PMID: 6148800 DOI: 10.1007/BF02890308] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 75 |
Hillman RE. GENETICS AND INTESTINAL ABSORPTION. Genetic Factors in Nutrition 1984. [DOI: 10.1016/b978-0-12-715950-8.50018-4] [Reference Citation Analysis]
|
| 76 |
Simell O, Sipilä I, Autio S. Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. Clin Chim Acta 1983;133:227-32. [PMID: 6627685 DOI: 10.1016/0009-8981(83)90409-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 77 |
Rajantie J, Simell O, Perheentupa J. Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance. J Pediatr 1983;102:388-90. [PMID: 6402575 DOI: 10.1016/s0022-3476(83)80654-4] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 78 |
Rajantie J, Simell O, Perheentupa J. "Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance. Acta Paediatr Scand 1983;72:65-70. [PMID: 6407277 DOI: 10.1111/j.1651-2227.1983.tb09665.x] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 0.4] [Reference Citation Analysis]
|
| 79 |
Rajantie J, Simell O, Perheentupa J. Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine. Metabolism 1983;32:49-51. [PMID: 6401349 DOI: 10.1016/0026-0495(83)90154-3] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 80 |
Eadie MJ, Tyrer JH. Disorders of the energy pathway and the metabolic intermediate pool. Biochemical Neurology 1983. [DOI: 10.1007/978-94-017-0896-8_2] [Reference Citation Analysis]
|
| 81 |
Kato T, Mizutani N, Ban M. Renal transport of lysine and arginine in lysinuric protein intolerance. Eur J Pediatr 1982;139:181-4. [PMID: 6819142 DOI: 10.1007/BF01377352] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 82 |
Flannery DB, Hsia YE, Wolf B. Current status of hyperammonemic syndromes. Hepatology 1982;2:495-506. [PMID: 7047351 DOI: 10.1002/hep.1840020417] [Cited by in Crossref: 59] [Cited by in F6Publishing: 59] [Article Influence: 1.4] [Reference Citation Analysis]
|
| 83 |
Andria G, Sebastio G, Sartorio R, Sannolo N. Arginine supplementation in lysinuric protein intolerance. J Inherit Metab Dis 1982;5:61-2. [DOI: 10.1007/bf01799829] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 84 |
Mowat A. Hepatic Disorders. Clinics in Gastroenterology 1982;11:171-205. [DOI: 10.1016/s0300-5089(21)00499-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 85 |
Silk D. Disorders of Nitrogen Absorption. Clinics in Gastroenterology 1982;11:47-72. [DOI: 10.1016/s0300-5089(21)00494-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 86 |
Andria G, Sebastio G, Strisciuglio P, Del Giudice E. Lysinuric protein intolerance: Possible genetic heterogeneity? J Inherit Metab Dis 1981;4:151-2. [DOI: 10.1007/bf02263635] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 87 |
Rajantie J, Simell O, Perheentupa J. Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. J Clin Invest 1981;67:1078-82. [PMID: 7204568 DOI: 10.1172/jci110120] [Cited by in Crossref: 49] [Cited by in F6Publishing: 51] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 88 |
Haust MD, Gatfield PD, Gordon BA. Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria. Hum Pathol 1981;12:212-22. [PMID: 7228016 DOI: 10.1016/s0046-8177(81)80121-9] [Cited by in Crossref: 23] [Cited by in F6Publishing: 23] [Article Influence: 0.5] [Reference Citation Analysis]
|
| 89 |
Rajantie J, Rapola J, Siimes MA. Ferritinemia with subnormal iron stores in lysinuric protein intolerance. Metabolism 1981;30:3-5. [PMID: 6780751 DOI: 10.1016/0026-0495(81)90211-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 90 |
Rajantie J, Simell O, Rapola J, Perheentupa J. Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. J Pediatr 1980;97:927-32. [PMID: 6777479 DOI: 10.1016/s0022-3476(80)80422-7] [Cited by in Crossref: 55] [Cited by in F6Publishing: 54] [Article Influence: 1.3] [Reference Citation Analysis]
|
| 91 |
Rajantie J, Simell O, Perheentupa J, Siimes MA. Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. Acta Paediatr Scand 1980;69:741-5. [PMID: 6782826 DOI: 10.1111/j.1651-2227.1980.tb07143.x] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 0.3] [Reference Citation Analysis]
|
| 92 |
Van Gennip AH, Van Bree-Blom EJ, Grift J, DeBree PK, Wadman SK. Urinary purines and pyrimidines in patients with hyperammonemia of various origins. Clin Chim Acta 1980;104:227-39. [PMID: 6771064 DOI: 10.1016/0009-8981(80)90200-4] [Cited by in Crossref: 30] [Cited by in F6Publishing: 30] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 93 |
Rajantie J, Simell O, Perheentupa J. Basolateral-membrane transport defect for lysine in lysinuric protein intolerance. Lancet 1980;1:1219-21. [PMID: 6104037 DOI: 10.1016/s0140-6736(80)91679-7] [Cited by in Crossref: 57] [Cited by in F6Publishing: 61] [Article Influence: 1.3] [Reference Citation Analysis]
|
| 94 |
Rajantie J, Simell O, Perheentupa J. Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline. Gut 1980;21:519-24. [PMID: 6776014 DOI: 10.1136/gut.21.6.519] [Cited by in Crossref: 30] [Cited by in F6Publishing: 32] [Article Influence: 0.7] [Reference Citation Analysis]
|
| 95 |
Desjeux JF, Simell RO, Dumontier AM, Perheentupa J. Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J Clin Invest 1980;65:1382-7. [PMID: 6773985 DOI: 10.1172/JCI109802] [Cited by in Crossref: 50] [Cited by in F6Publishing: 54] [Article Influence: 1.2] [Reference Citation Analysis]
|
| 96 |
Endres W, Zoulek G, Schaub J. Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance. Eur J Pediatr 1979;131:33-41. [PMID: 436855 DOI: 10.1007/BF00442783] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.0] [Reference Citation Analysis]
|
| 97 |
Bergsma D. Compendium. Birth Defects Compendium 1979. [DOI: 10.1007/978-1-349-05131-1_2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.0] [Reference Citation Analysis]
|
| 98 |
Chan H, Billmeier GJ Jr, Molinary SV, Tucker HN, Shin BC, Schaffer A, Cavallo K. Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance. J Pediatr 1977;91:79-81. [PMID: 874670 DOI: 10.1016/s0022-3476(77)80451-4] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.2] [Reference Citation Analysis]
|
| 99 |
Carson NA, Redmond OA. Lysinuric protein intolerance. Ann Clin Biochem 1977;14:135. [PMID: 869490 DOI: 10.1177/000456327701400127] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 0.1] [Reference Citation Analysis]
|
| 100 |
Perry TL, Hansen S, MacLean J. Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap. Clin Chim Acta 1976;69:441-5. [PMID: 947596 DOI: 10.1016/0009-8981(76)90117-0] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 0.3] [Reference Citation Analysis]
|
