Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio-Reference-Cited by-同舟云学术

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Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Published:2020-03 Issue: Volume:22 Page:100551
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Haijes H.A.,Prinsen Hubertus C.M.T.,de Sain-van der Velden Monique G.M.,Verhoeven-Duif Nanda M.,van Hasselt Peter M.,Jans Judith J.M.

Funder

Alexandre Suerman Stipend of the University Medical Centre Utrecht

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference14 articles.

1. Laboratory Guide to the Methods in Biochemical Genetics;Blau,2008

2. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition;Bröer;IUBMB Life,2009

3. Aminoacidurias: clinical and molecular aspects;Camargo;Kidney Int.,2008

4. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder;Cheon;Pediatr. Neurol.,2010

5. Fanconi syndrome;Foreman;Pediatr. Clin. N. Am.,2019

Cited by 3 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. Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options;Cells;2023-09-19

2. Metabolic Disorders With Associated Movement Abnormalities;Movement Disorders in Childhood;2022

3. Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy;American Journal of Medical Genetics Part A;2021-08-30

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