Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation-Reference-Cited by-同舟云学术

Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation

Published:2020-05-05 Issue:1 Volume:98 Page:102-103
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mir Ali¹,Hadab Safeya¹,Sammak Mohammed²,Alhazmi Rami³,Housawi Yousef⁴,Bashir Shahid¹⁵^ORCID

Affiliation:

1. Department of Pediatric neurology King Fahad Specialist Hospital Dammam (KFSHD) Dammam Saudi Arabia

2. Department of Pathology & Laboratory Medicine King Fahad Specialist Hospital Dammam (KFSHD) Dammam Saudi Arabia

3. Medical Imaging Department King Fahad Specialist Hospital Dammam (KFSHD) Dammam Saudi Arabia

4. Genetic and Metabolic Department King Fahad Specialist Hospital Dammam (KFSHD) Dammam Saudi Arabia

5. Berenson‐Allen Center for Non‐invasive Brain Stimulation, Department of Neurology Beth Israel Deaconess Medical Center, Harvard Medical School Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13763

Reference6 articles.

1. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations

2. Metabolic biology of 3-methylglutaconic acid-uria: a new perspective

3. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

4. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

5. CizkovaA StraneckyV MayrJ et al. TMEM70 is a novel factor of mitochondrial ATPase biogenesis and its mutations cause isolated enzyme deficiency and neonatal encephalocardiomyopathy Abstract book of Euromit 7 Stockholm2008; A: 137.

Cited by 9 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. Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50;2024-08-29

2. Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50;2024-08-29

3. Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease;Molecular and Cellular Biology;2024-06-02

4. Conserved quality control mechanisms of mitochondrial protein import;Journal of Inherited Metabolic Disease;2024-05-24

5. Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50;2024-05-20