Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome-Reference-Cited by-同舟云学术

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

Published:2003-07 Issue:5 Volume:26 Page:481-488
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Yano S.¹,Li L.²,Le T. P.²,Moseley K.¹,Guedalia A.¹,Lee J.³,Gonzalez I.⁴,Boles R. G.¹

Affiliation:

1. ; Medical Genetics, Department of Pediatrics; Children's Hospital Los Angeles University of Southern California, Keck School of Medicine; Los Angeles California USA

2. ; Department of Pediatrics; University of California San Diego; San Diego California USA

3. University Childrens Genetics Laboratory, ProGene Co.; Los Angeles California USA

4. ; Department of Pathology and Laboratory Medicine; Children's Hospital Los Angeles University of Southern California, Keck School of Medicine; Los Angeles California USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025125427868/fullpdf

Reference20 articles.

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2. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation;Barthelemy;Ann Neurol,2001

3. Depletion ofmitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis;Ducluzeau;J Hepatol,1999

4. Defects of the mitochondrial res-piratory chain complexes in three pediatric cases with hypotonia and cardiac involvement;Figarella-Branger;J Neurol Sci,1992

5. Mitochondrial DNA depletion in Leigh syndrome;Filiano;Pediatr Neurol,2002

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