(Q44183908)

English

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

scientific article published in October 2002

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 November 2017

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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decanoyllevocarnitine

1 reference

ChEBI release 2020-05-28

medium chain acyl-CoA dehydrogenase deficiency

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Ronald J A Wanders

8

object named as

Ronald J A Wanders

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

author name string

Jürgen G Okun

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Stefan Kölker

2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Andreas Schulze

3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Dirk Kohlmüller

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Katharina Olgemöller

5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Martin Lindner

6

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Georg F Hoffmann

7

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Ertan Mayatepek

9

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

publication date

1 October 2002

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Europe PubMed Central

PubMed publication ID

30 November 2017

Biochimica et Biophysica Acta

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Europe PubMed Central

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30 November 2017

1584

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Europe PubMed Central

PubMed publication ID

30 November 2017

2-3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

91-98

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and functional characterisation of mild MCAD deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1388-1981%2802%2900296-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1388-1981(02)00296-2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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