Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (Q31134116)

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9 January 2020

title

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

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15

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Luis Peña-Quintana

17

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Morteza Pourfarzam

19

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author name string

B Merinero

1

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B Pérez

2

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C Pérez-Cerdá

3

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A Rincón

4

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L R Desviat

5

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M A Martínez

6

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P Ruiz Sala

7

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M J García

8

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L Aldamiz-Echevarría

9

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J Campos

10

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V Cornejo

11

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M Del Toro

12

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A Mahfoud

13

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M Martínez-Pardo

14

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C Pedrón

16

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M Pérez

18

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M Ugarte

20

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publication date

22 October 2007

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Journal of Inherited Metabolic Disease

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published in

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volume

31

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issue

1

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page(s)

55-66

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The impact of screening for propionic and methylmalonic acidaemia

9 January 2020

cites work

1 reference

12 December 2020

The management and outcome of propionic and methylmalonic acidaemia

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12 December 2020

MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation.

1 reference

12 December 2020

A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?

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

Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation

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

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia

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12 December 2020

Structure of ATP-bound human ATP:cobalamin adenosyltransferase

1 reference

12 December 2020

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

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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

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12 December 2020

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

1 reference

12 December 2020

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

1 reference

12 December 2020

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism

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

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism

1 reference

12 December 2020

The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase

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

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

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12 December 2020

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

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12 December 2020

Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

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12 December 2020

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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12 December 2020

Modifier genes convert "simple" Mendelian disorders to complex traits

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12 December 2020

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

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12 December 2020

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism

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12 December 2020

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

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12 December 2020

Nonsense-mediated decay approaches the clinic

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12 December 2020

10.1007/S10545-007-0667-Y

Identifiers

DOI

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Dimensions Publication ID

9 January 2020

1017350972

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