(Q37765196)

22 August 2017

title

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America (English)

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Raquel Dodelson de Kremer

22 August 2017

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9

object named as

Raquel Dodelson de Kremer

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Moacir Wajner

8

object named as

Moacir Wajner

1 reference

22 August 2017

Belén Pérez

1

1 reference

22 August 2017

Celia Angaroni

2

1 reference

22 August 2017

Rocio Sánchez-Alcudia

3

1 reference

22 August 2017

Begoña Merinero

4

1 reference

22 August 2017

Celia Pérez-Cerdá

5

1 reference

22 August 2017

N Specola

6

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22 August 2017

P Rodríguez-Pombo

7

1 reference

22 August 2017

Raquel Dodelson de Kremer

9

1 reference

22 August 2017

Verónica Cornejo

10

1 reference

22 August 2017

Lourdes R Desviat

11

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22 August 2017

Magdalena Ugarte

12

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22 August 2017

publication date

15 June 2010

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Journal of Inherited Metabolic Disease

22 August 2017

published in

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22 August 2017

volume

33

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22 August 2017

issue

Suppl 2

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22 August 2017

page(s)

S307-14

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Functional characterization of PCCA mutations causing propionic acidemia.

22 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9116-4

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

21 January 2018

1 reference

12 December 2020

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

1 reference

12 December 2020

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

12 December 2020

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

1 reference

12 December 2020

Modulating the expression of disease genes with RNA-based therapy.

1 reference

12 December 2020

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

1 reference

12 December 2020

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

1 reference

12 December 2020

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

1 reference

12 December 2020

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

1 reference

12 December 2020

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

1 reference

12 December 2020

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

1 reference

12 December 2020

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

1 reference

12 December 2020

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

1 reference

12 December 2020

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

1 reference

12 December 2020

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

1 reference

12 December 2020

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

1 reference

12 December 2020

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

1 reference

12 December 2020

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

1 reference

12 December 2020

Causes of and diagnostic approach to methylmalonic acidurias.

1 reference

12 December 2020

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

1 reference

12 December 2020

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

1 reference

12 December 2020

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

1 reference

12 December 2020

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

1 reference

12 December 2020

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

1 reference

12 December 2020

Introducing sense into nonsense in treatments of human genetic diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

1 reference

12 December 2020

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

1 reference

12 December 2020

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

12 December 2020

10.1007/S10545-010-9116-4

Identifiers

DOI

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22 August 2017

1 reference