D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference9 articles.
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2. D-2-hydroxyglutaric aciduria: biochemical marker or clinical disease entity?;Van der Knaap;Ann. Neurol.,1999
3. D-2-hydroxyglutaric aciduria: further clinical delineation;van der Knapp;J. Inherit. Metab. Dis.,1999
4. D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis;Talkhani;Skelet. Radiol.,2000
5. Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria;Haliloglu;J. Inherit. Metab. Dis.,2009
Cited by 2 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. Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism;Clinical Chemistry;2024-06
2. Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder;Annals of Indian Academy of Neurology;2021
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