Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey-Reference-Cited by-同舟云学术

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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

Published:2023-09 Issue: Volume:36 Page:100979
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Bozaci Ayse Ergül,Er Esra,Ünal Aysel Tekmenuray,Taş İbrahim,Ayaz Ercan,Ozbek Mehmet Nuri,Durmaz Asude,Aykut Ayçe,Kose Melis

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference25 articles.

1. Cerebral organic acid disorders and other disorders of lysine catabolism;Hoffman,2016

2. White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms;Kölker;Neuropediatrics,2002

3. Decline of acute encephalopathic crises in children with glutaryl- CoA dehydrogenase deficiency identified by neonatal screening in Germany;Kölker;Pediatr. Res.,2007

4. Newborn screening: a disease-changing intervention for glutaric aciduria type 1;Boy;Ann. Neurol.,2018

5. Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data;Patay;AJNR Am. J. Neuroradiol.,2012

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1. From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood;Archives Of Epilepsy;2024-06-13

2. Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment;Current Issues in Molecular Biology;2024-06-06

3. L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine;Tremor and Other Hyperkinetic Movements;2024

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