(Q43564502)

24 November 2017

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile (English)

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carnitine palmitoyltransferase I deficiency

24 November 2017

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author name string

K G Sim

1

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24 November 2017

V Wiley

2

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24 November 2017

K Carpenter

3

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24 November 2017

B Wilcken

4

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24 November 2017

1 February 2001

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Journal of Inherited Metabolic Disease

24 November 2017

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24 November 2017

24

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24 November 2017

51-59

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24 November 2017

1

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https://scigraph.springernature.com/pub.10.1023/a:1005606805951

24 November 2017

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cites work

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

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12 December 2020

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

1 reference

12 December 2020

Mouse white adipocytes and 3T3-L1 cells display an anomalous pattern of carnitine palmitoyltransferase (CPT) I isoform expression during differentiation. Inter-tissue and inter-species expression of CPT I and CPT II enzymes

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12 December 2020

Carnitine status at birth of newborn infants of varying gestation

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12 December 2020

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

1 reference

12 December 2020

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

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12 December 2020

Prenatal diagnosis of mitochondrial fatty acid oxidation defects

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12 December 2020

The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts

1 reference

12 December 2020

Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I.

1 reference

12 December 2020

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

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12 December 2020

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

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12 December 2020

Carnitine in neonatal nutrition

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12 December 2020

Carnitine palmitoyltransferase deficiencies

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12 December 2020

Recent developments in the investigation of inherited metabolic disorders using cultured human cells

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12 December 2020

Serum carnitine concentrations in patients with idiopathic hypertrophic cardiomyopathy: relationship with impaired myocardial fatty acid metabolism

1 reference

12 December 2020

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

1 reference

12 December 2020

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

1 reference

12 December 2020

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

1 reference

12 December 2020

Mitochondrial carnitine palmitoyltransferase I isoform switching in the developing rat heart

1 reference

12 December 2020

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

1 reference

12 December 2020

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

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

Carnitine plasma concentrations in 353 metabolically healthy children.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Medical aspects of ketone body metabolism.

1 reference

12 December 2020

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005606805951

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Dimensions Publication ID

24 November 2017

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1 reference