(Q40618705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14605500%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency (English)

1 reference

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20 December 2019

author

Brage Storstein Andresen

9

1 reference

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20 December 2019

Morteza Pourfarzam

13

1 reference

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20 December 2019

author name string

S E Olpin

1

1 reference

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20 December 2019

A Afifi

2

1 reference

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20 December 2019

S Clark

3

1 reference

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20 December 2019

N J Manning

4

1 reference

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20 December 2019

J R Bonham

5

1 reference

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20 December 2019

A Dalton

6

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20 December 2019

J V Leonard

7

1 reference

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20 December 2019

J M Land

8

1 reference

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20 December 2019

A A Morris

10

1 reference

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20 December 2019

F Muntoni

11

1 reference

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20 December 2019

D Turnbull

12

1 reference

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20 December 2019

S Rahman

14

1 reference

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20 December 2019

R J Pollitt

15

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20 December 2019

publication date

1 January 2003

1 reference

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Journal of Inherited Metabolic Disease

20 December 2019

published in

1 reference

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20 December 2019

volume

26

1 reference

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20 December 2019

issue

6

1 reference

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20 December 2019

page(s)

543-557

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https://scigraph.springernature.com/pub.10.1023/a:1025947930752

20 December 2019

exact match

0 references

cites work

Effects of estradiol on substrate turnover during exercise in amenorrheic females

1 reference

12 December 2020

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation

1 reference

12 December 2020

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

1 reference

12 December 2020

Carnitine palmitoyl transferase deficiency in malignant hyperthermia

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

1 reference

12 December 2020

Heterozygosity: an expanding role in proteomics

1 reference

12 December 2020

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

12 December 2020

Carnitine palmitoyltransferase deficiencies

1 reference

12 December 2020

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

1 reference

12 December 2020

The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies

1 reference

12 December 2020

Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase

1 reference

12 December 2020

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

12 December 2020

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene

1 reference

12 December 2020

Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

1 reference

12 December 2020

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

1 reference

12 December 2020

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

1 reference

12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

1 reference

12 December 2020

A novel mutation identified in carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

1 reference

12 December 2020

Short-term 17beta-estradiol decreases glucose R(a) but not whole body metabolism during endurance exercise

1 reference

12 December 2020

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

1 reference

12 December 2020

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

1 reference

12 December 2020

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid

1 reference

12 December 2020

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

12 December 2020

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood

1 reference

12 December 2020

Novel mutations associated with carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation

1 reference

12 December 2020

Molecular basis of AMP deaminase deficiency in skeletal muscle

1 reference

12 December 2020

1 reference

12 December 2020

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency

1 reference

12 December 2020

Primary, secondary, and coincidental types of myoadenylate deaminase deficiency

1 reference

12 December 2020