Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy-Reference-Cited by-同舟云学术

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Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy

Published:2010-10 Issue:4 Volume:43 Page:279-282
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Wasant Pornswan,Kuptanon Chulaluck,Vattanavicharn Nithiwat,Liammongkolkul Somporn,Ratanarak Pisanu,Sangruchi Tumtip,Yamaguchi Seiji

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. Glutaric aciduria type II: observations in seven patients with neonatal and late-onset disease;al-Essa;J Perinatol,2000

2. Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin;Mooy;Eur J Pediatr,1984

3. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency;Olsen;Hum Mutat,2003

4. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2;Yotsumoto;Mol Genet Metab,2008

5. Lipid storage myopathies: a review of metabolic defect and of treatment;Angelini;J Neurol,1976

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1. Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia;Molecular Genetics and Metabolism;2024-08

2. The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience;Molecular Genetics and Metabolism Reports;2024-06

3. Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort;Journal of Clinical Neurology;2024

4. Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia;Journal of Medical Cases;2022-02

5. Glutaric Acidemia, Pathogenesis and Nutritional Therapy;Frontiers in Nutrition;2021-12-15

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