Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. (Q43732937)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Sacksteder KA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Gould SJ

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Coldwell JG

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Rady PL

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Tyring SK

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Matalon R

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

1 reference

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neuroscience Research

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

591-594

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries

11 November 2019

cites work

1 reference

Lipid biosynthesis in the sebaceous glands. Synthesis of multibranched fatty acids from methylmalonyl-coenzyme A in cell-free preparations from the uropygial gland of goose

21 January 2018

1 reference

Fatal neonatal malonic aciduria

21 January 2018

1 reference

Cytoplasmic accumulation of a normally mitochondrial malonyl-CoA decarboxylase by the use of an alternate transcription start site

21 January 2018

1 reference

The cellular localization of malonyl-coenzyme A decarboxylase in rat brain.

21 January 2018

1 reference

The molecular basis of malonyl-CoA decarboxylase deficiency.

21 January 2018

1 reference

Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency

21 January 2018

1 reference

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect

21 January 2018

1 reference

Malonyl-CoA decarboxylase from the uropygial gland of waterfowl: Purification, properties, immunological comparison, and role in regulating the synthesis of multimethyl-branched fatty acids

21 January 2018

1 reference

Malonyl-CoA decarboxylase in rat brain mitochondria

21 January 2018

1 reference

Malonyl coenzyme A decarboxylase deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

21 January 2018

1 reference

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

21 January 2018

1 reference

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

21 January 2018

1 reference

Malonyl coenzyme a decarboxylase deficiency

21 January 2018

1 reference

Malonic aciduria and cardiomyopathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JNR.1189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11550227%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference