Propionic acidemia: identification of twenty-four novel mutations in Europe and North America-Reference-Cited by-同舟云学术

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Published:2003-01 Issue:1 Volume:78 Page:59-67
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pérez B,Desviat L.R,Rodrı́guez-Pombo P,Clavero S,Navarrete R,Perez-Cerdá C,Ugarte M

Publisher

Elsevier BV

Subject

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

Reference34 articles.

1. Disorders of propionate and methylmalonate metabolism;Fenton,2001

2. Evolutionary conservation among biotin enzymes;Samols;J. Biol. Chem.,1988

3. Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase a subunit expressed in Escherichia coli;Leon-del-Rio;J. Biol. Chem.,1994

4. Structure of the PCCA gene and distribution of mutations causing propionic acidemia;Campeau;Mol. Genet. Metab.,2001

5. Human propionyl-CoA carboxylase β subunit gene: exon–intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients;Rodrı́guez-Pombo;Am. J. Hum. Genet.,1998

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1. Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia;Gene;2024-01

2. Prevalence of propionic acidemia in China;Orphanet Journal of Rare Diseases;2023-09-09

3. Pathophysiological mechanisms of complications associated with propionic acidemia;Pharmacology & Therapeutics;2023-09

4. Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia;Molecular Genetics and Genomics;2023-05-02

5. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia;Journal of Inherited Metabolic Disease;2022-11-03

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