LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency-Reference-Cited by-同舟云学术

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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

Published:2018-04-21 Issue:5 Volume:176 Page:1184-1189
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Stowe Robert C.¹^ORCID,Sun Qin²,Elsea Sarah H.²,Scaglia Fernando²³

Affiliation:

1. Department of Pediatrics, Section of Pediatric Neurology and Developmental NeuroscienceBaylor College of MedicineHouston Texas

2. Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas

3. Texas Children's HospitalHouston Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38654

Reference16 articles.

1. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

2. Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

3. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

4. Mitochondrial fatty acid synthesis and respiration

5. Lipoic acid biosynthesis defects

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