(Q45953629)

18 December 2017

title

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (English)

1 reference

18 December 2017

carnitine palmitoyltransferase II deficiency

main subject

0 references

8

Georgirene D Vladutiu

1 reference

18 December 2017

author name string

Paul J Isackson

1

1 reference

18 December 2017

Michael J Bennett

2

1 reference

18 December 2017

Uta Lichter-Konecki

3

1 reference

18 December 2017

Mary Willis

4

1 reference

18 December 2017

William L Nyhan

5

1 reference

18 December 2017

V Reid Sutton

6

1 reference

18 December 2017

Ingrid Tein

7

1 reference

18 December 2017

publication date

11 June 2008

1 reference

18 December 2017

Molecular Genetics and Metabolism

published in

1 reference

18 December 2017

volume

94

1 reference

18 December 2017

issue

4

1 reference

18 December 2017

page(s)

422-427

1 reference

18 December 2017

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine Palmitoyltransferase II Deficiency: A Clinical, Biochemical, and Molecular Review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Antenatal presentation of carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structures of murine carnitine acetyltransferase in ternary complexes with its substrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification by mutagenesis of a conserved glutamate (Glu487) residue important for catalytic activity in rat liver carnitine palmitoyltransferase II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

The conserved serine-threonine-serine motif of the carnitine acyltransferases is involved in carnitine binding and transition-state stabilization: a site-directed mutagenesis study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structure of rat carnitine palmitoyltransferase II (CPT-II)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Crystal structure of carnitine acetyltransferase and implications for the catalytic mechanism and fatty acid transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

A novel mutation identified in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.05.002

10.1016/J.YMGME.2008.05.002

7 January 2021

Identifiers

DOI

1 reference

18 December 2017

1 reference

18 December 2017