(Q37384234)

20 August 2017

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency (English)

1 reference

carnitine palmitoyltransferase I deficiency

20 August 2017

0 references

author name string

IJlst L

1

1 reference

20 August 2017

Mandel H

2

1 reference

20 August 2017

Oostheim W

3

1 reference

20 August 2017

Ruiter JP

4

1 reference

20 August 2017

Gutman A

5

1 reference

20 August 2017

Wanders RJ

6

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 August 1998

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

102

1 reference

20 August 2017

527-531

1 reference

20 August 2017

3

1 reference

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Measurement of protein using bicinchoninic acid

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Complementation analysis of fatty acid oxidation disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

The ethanol-inducible YAT1 gene from yeast encodes a presumptive mitochondrial outer carnitine acetyltransferase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Specific alkylation of a histidine residue in carnitine acetyltransferase by bromoacetyl-l-carnitine

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508913

Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonyl-CoA

2 September 2018

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

Analysis of mitochondrial function and assembly

1 reference

12 December 2020

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

1 reference

12 December 2020

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1 reference

12 December 2020

Catalytically important domains of rat carnitine palmitoyltransferase II as determined by site-directed mutagenesis and chemical modification. Evidence for a critical histidine residue

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI2927

1 reference

20 August 2017

1 reference

20 August 2017

1 reference