Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine-Reference-Cited by-同舟云学术

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Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

Published:2012-02 Issue:2 Volume:105 Page:228-236
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mudd S. Harvey,Wagner Conrad,Luka Zigmund,Stabler Sally P.,Allen Robert H.,Schroer Richard,Wood Timothy,Wang Jing,Wong Lee-Jun

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference73 articles.

1. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations;Wong;Hum. Mutat.,2008

2. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase;Dimmock;Hum. Mutat.,2007

3. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy;Wong;Hepatology,2007

4. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients with novel mutations;El-Hattab;Mol. Genet. Metab.,2010

5. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum;Tang;J. Med. Genet.,2011

Cited by 23 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. Natural history of deoxyguanosine kinase deficiency;Molecular Genetics and Metabolism;2024-09

2. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome;Brain Communications;2024

3. Mitochondrial depletion syndrome type 3: the Lebanese variant;Frontiers in Genetics;2023-06-29

4. Loss of mpv17 affected early embryonic development via mitochondria dysfunction in zebrafish;Cell Death Discovery;2021-09-18

5. S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver;Journal of Bioenergetics and Biomembranes;2021-08-04

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