(Q40637694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955715%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency (English)

1 reference

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7 November 2019

6

1 reference

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7 November 2019

David R. FitzPatrick

7

1 reference

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7 November 2019

author name string

Wightman PJ

1

1 reference

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7 November 2019

Santer R

2

1 reference

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7 November 2019

Ribes A

3

1 reference

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7 November 2019

Dougherty F

4

1 reference

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7 November 2019

McGill N

5

1 reference

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7 November 2019

publication date

1 October 2003

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7 November 2019

1 reference

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7 November 2019

volume

22

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7 November 2019

issue

4

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7 November 2019

page(s)

288-300

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Relative importance of malonyl CoA and carnitine in maturation of fatty acid oxidation in newborn rabbit heart

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

Roles of the N- and C-terminal domains of carnitine palmitoyltransferase I isoforms in malonyl-CoA sensitivity of the enzymes: insights from expression of chimaeric proteins and mutation of conserved histidine residues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Malonyl coenzyme a decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Characterization of rat liver malonyl-CoA decarboxylase and the study of its role in regulating fatty acid metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Relative quantitative RT-PCR protocol for TrkB expression in neuroblastoma using GAPD as an internal control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

The molecular basis of malonyl-CoA decarboxylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Developmental pattern of the expression of malonyl-CoA decarboxylase gene and the production of unique lipids in the goose uropygial glands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Malonyl coenzyme A decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Phosphorylation-dependent neurofilament epitopes are reduced at the node of Ranvier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Malonic aciduria and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

A novel brain-expressed protein related to carnitine palmitoyltransferase I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Mitochondrial myopathy with a defect of mitochondrial-protein transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10264

7 January 2021

Identifiers

DOI

10.1002/HUMU.10264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12955715%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference