(Q28285977)

2

0 references

C Pérez-Cerdá

3

0 references

P Rodríguez-Pombo

4

0 references

S Clavero

5

0 references

M Ugarte

6

0 references

language of work or name

English

0 references

publication date

2004

1 reference

Molecular Genetics and Metabolism

PubMed

number of pages

10

1 reference

based on heuristic

inferred from page(s)

published in

0 references

volume

83

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issue

1-2

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page(s)

28-37

0 references

cites work

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Propionic acidemia: unusual course with late onset and fatal outcome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Structure of the PCCA gene and distribution of mutations causing propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Functional characterization of PCCA mutations causing propionic acidemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Movement of the biotin carboxylase B-domain as a result of ATP binding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

High resolution solution structure of the 1.3S subunit of transcarboxylase from Propionibacterium shermanii

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Molecular basis of phenotypic heterogeneity in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Splicing regulation as a potential genetic modifier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Late onset type of propionic acidaemia: case report and biochemical studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

Odd-numbered long-chain fatty acids in propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

SWISS-MODEL: An automated protein homology-modeling server

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.001

10.1016/J.YMGME.2004.08.001

7 January 2021

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

15464417

1 reference

Consolidated OpenCitations Corpus – April 2017