(Q28244155)

2

0 references

N G G M Abeling

3

0 references

B T Poll-The

4

0 references

W J Kleijer

5

0 references

D S Rosenblatt

6

0 references

H R Waterham

7

0 references

R J A Wanders

8

0 references

M Duran

Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.

9

0 references

language of work or name

English

0 references

publication date

July 2006

0 references

published in

Human Mutation

0 references

volume

27

0 references

issue

7

0 references

page(s)

640-3

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

HPLC assay for methylmalonyl-CoA epimerase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

DL-methylmalonyl-CoA racemase from rat liver

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20373

7 January 2021

Identifiers

DOI

10.1002/HUMU.20373

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16752391

1 reference

Consolidated OpenCitations Corpus – April 2017