Disorders of Leucine, Isoleucine, and Valine Metabolism-Reference-Cited by-同舟云学术

Disorders of Leucine, Isoleucine, and Valine Metabolism

Published:2013-01-28 Issue: Volume: Page:103-141
ISSN:
Container-title:Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
language:
Short-container-title:

Author:

Knerr Ina,Vockley Jerry,Gibson K. Michael

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/978-3-642-40337-8_7

Reference35 articles.

1. Acosta PB, Yannicelli S (2001) The Ross metabolic formula system, nutrition support protocols, 4th edn. Ross Products Division, Abbott Laboratories, Columbus

2. Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J (2010) Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Mol Genet Metab 100:333–338

3. Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F (2000) Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet 67:1095–1103

4. Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B (2011) Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet 20:631–640

5. Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM (2000) Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 23:497–504

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland;Journal of Inherited Metabolic Disease;2020-12-20

2. Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience;Journal of Pediatric Endocrinology and Metabolism;2020-11-11

3. Weighted gene co‐expression network analysis reveals potential candidate genes affecting drip loss in pork;Animal Genetics;2020-09-28

4. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department;European Journal of Pediatrics;2020-02-11

5. Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis;Expert Opinion on Orphan Drugs;2017-12-27