Glutaric acidemia type 1-Reference-Cited by-同舟云学术

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Glutaric acidemia type 1

Published:2006 Issue:2 Volume:142C Page:86-94
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hedlund Gary L.,Longo Nicola,Pasquali Marzia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. Multiple Acyl-CoA-Dehydrogenase Deficiency (MADD): Use of Acylcarnitines and Fatty Acids to Monitor the Response to Dietary Treatment

2. Adult onset glutaric aciduria type I presenting with a leukoencephalopathy

3. Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency

4. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

Cited by 102 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. Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH;Stem Cell Research;2024-09

2. Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings;Radiology Case Reports;2024-09

3. Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1;JIMD Reports;2024-08-27

4. Disorders of organic acid metabolism and epilepsy;Acta Epileptologica;2024-08-20

5. Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I;Neurotoxicity Research;2024-07-04

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