Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. (Q51998580)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

G S Salomons

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

C Jakobs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

L Landegge Pope

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

A Errami

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Potter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Nowaczyk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

S Olpin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

N Manning

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

J A J Raiman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

T Slade

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M P Champion

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

D Gavrilov

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

R Hillman

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

G E Hoganson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

K Donaldson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

J P H Shield

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

D Ketteridge

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

M Wasserstein

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

K M Gibson

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

publication date

20 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

23 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

23-28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186413%20AND%20SRC:MED&resulttype=core&format=json

The molecular basis of malonyl-CoA decarboxylase deficiency.

23 December 2019

cites work

1 reference

12 December 2020

The malonyl-CoA-long-chain acyl-CoA axis in the maintenance of mammalian cell function

1 reference

12 December 2020

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies

1 reference

12 December 2020

Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Malonyl-CoA decarboxylase is present in the cytosolic, mitochondrial and peroxisomal compartments of rat hepatocytes

1 reference

12 December 2020

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase

1 reference

12 December 2020

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Malonyl-CoA decarboxylase is a major regulator of myocardial fatty acid oxidation

1 reference

12 December 2020

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

1 reference

12 December 2020

Absence of malonyl coenzyme A decarboxylase in mice increases cardiac glucose oxidation and protects the heart from ischemic injury

1 reference

12 December 2020

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

1 reference

12 December 2020

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

1 reference

12 December 2020