Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. (Q38018431)

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5 February 2020

title

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia (English)

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Vorasuk Shotelersuk

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5 February 2020

Jisnuson Svasti

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5 February 2020

author name string

Nithiwat Vatanavicharn

1

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5 February 2020

Voraratt Champattanachai

2

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5 February 2020

Somporn Liammongkolkul

3

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Phannee Sawangareetrakul

4

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5 February 2020

Siriporn Keeratichamroen

5

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5 February 2020

Chantragan Srisomsap

7

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Achara Sathienkijkanchai

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5 February 2020

Mahattana Kamolsilp

10

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Duangrurdee Wattanasirichaigoon

11

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Pornswan Wasant

13

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publication date

29 May 2012

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Molecular Genetics and Metabolism

5 February 2020

published in

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volume

106

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issue

4

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page(s)

424-429

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Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression

5 February 2020

cites work

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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

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

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Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

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Methylmalonic and propionic acidaemias: management and outcome

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The Natural History of the Inherited Methylmalonic Acidemias

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Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

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

7 January 2021

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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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Gene identification for the cblD defect of vitamin B12 metabolism

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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.

7 January 2021

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

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Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

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

7 January 2021

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Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

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A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis

7 January 2021

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Novel mutations in a Thai patient with methylmalonic acidemia.

7 January 2021

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Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

7 January 2021

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Causes of and diagnostic approach to methylmalonic acidurias.

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Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

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

7 January 2021

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Cardiac disease in methylmalonic acidemia

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Chronic management and health supervision of individuals with propionic acidemia.

7 January 2021

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Fine-scale variation and genetic determinants of alternative splicing across individuals

7 January 2021

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