Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy-Reference-Cited by-同舟云学术

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Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

Published:2018-05 Issue:1 Volume:124 Page:57-63
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Boyer M.,Sowa M.,Di Meo I.,Eftekharian S.,Steenari M.R.,Tiranti V.,Abdenur J.E.

Funder

Fry Family Foundation

Publisher

Elsevier BV

Subject

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

Reference15 articles.

1. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy;Tiranti;Nat. Med.,2009

2. Altered sulfide (H2S) metabolism in Ethylmalonic encephalopathy;Tiranti;Cold Spring Harb. Perspect. Biol.,2013

3. Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease;Dionisi-Vici;Brain,2016

4. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein;Tiranti;Am. J. Hum. Genet.,2004

5. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin;Yoon;J. Inherit. Metab. Dis.,2001

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4. Depleted uranium causes renal mitochondrial dysfunction through the ETHE1/Nrf2 pathway;Chemico-Biological Interactions;2023-02

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