(Q28265071)

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

Molecular enzymology of carnitine transfer and transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

Crystal structure of mouse carnitine octanoyltransferase and molecular determinants of substrate selectivity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Recent developments and new applications of tandem mass spectrometry in newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

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.2006.08.004

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

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.2006.08.004

A novel mutation identified in carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Antenatal presentation of carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Combined cDNA array/RT-PCR analysis of gene expression profile in rat gastrocnemius muscle: relation to its adaptive function in energy metabolism during fasting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Phosphorylation of rat liver mitochondrial carnitine palmitoyltransferase-I: effect on the kinetic properties of the enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

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.2006.08.004

Purification and properties of carnitine octanoyltransferase and carnitine palmitoyltransferase from rat liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004

Effects of octylglucoside and triton X-100 on the kinetics and specificity of carnitine palmitoyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.004