(Q79369751)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17113806%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17113806%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Thomas J Lempp

1

1 reference

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22 December 2019

Terttu Suormala

2

1 reference

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22 December 2019

Renate Siegenthaler

3

1 reference

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22 December 2019

E Regula Baumgartner

4

1 reference

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22 December 2019

Brian Fowler

5

1 reference

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22 December 2019

Beat Steinmann

6

1 reference

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22 December 2019

Matthias R Baumgartner

7

1 reference

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22 December 2019

publication date

20 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17113806%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

22 December 2019

published in

1 reference

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22 December 2019

volume

90

1 reference

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22 December 2019

page(s)

284-290

1 reference

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22 December 2019

issue

3

1 reference

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

22 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

The Natural History of the Inherited Methylmalonic Acidemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Methylmalonic and propionic acidaemias: management and outcome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Structure of the human methylmalonyl-CoA mutase (MUT) locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Crystal structure of substrate complexes of methylmalonyl-CoA mutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

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.2006.10.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.002

10.1016/J.YMGME.2006.10.002

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17113806%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference