Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma-Reference-Cited by-同舟云学术

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

Published:2020-11-16 Issue:1 Volume:58 Page:12-20
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Foran Jason¹^ORCID,Moore Michael²,Crushell Ellen³,Knerr Ina³^ORCID,McSweeney Niamh¹

Affiliation:

1. Department of Paediatric Neurology Cork University Hospital Cork Republic of Ireland

2. Department of Radiology Cork University Hospital Cork Republic of Ireland

3. National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Republic of Ireland

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12187

Reference37 articles.

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2. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

3. Glutaric acidemia type 1

4. Disease‐causing mutations affecting surface residues of mitochondrial glutaryl‐CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture;Schmiesing J;Hum Mol Genet,2017

5. Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

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