(Q47409258)

15 January 2018

title

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene (English)

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15 January 2018

author name string

McKinney JT

1

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15 January 2018

Longo N

2

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15 January 2018

Hahn SH

3

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15 January 2018

Matern D

4

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15 January 2018

Rinaldo P

5

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15 January 2018

Strauss AW

6

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15 January 2018

Dobrowolski SF

7

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15 January 2018

publication date

1 June 2004

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15 January 2018

Molecular Genetics and Metabolism

published in

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15 January 2018

volume

82

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15 January 2018

issue

2

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15 January 2018

page(s)

112-120

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15 January 2018

Fatty acid oxidation disorders

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.004

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Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.

7 January 2021

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Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

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Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

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7 January 2021

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Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.004

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

7 January 2021

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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

7 January 2021

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Data required for the evaluation of newborn screening programmes

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

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Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

7 January 2021

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

7 January 2021

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Molecular and functional characterisation of mild MCAD deficiency

7 January 2021

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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

7 January 2021

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7 January 2021

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Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

7 January 2021

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Detecting single base substitutions, mismatches and bulges in DNA by temperature gradient gel electrophoresis and related methods

7 January 2021

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7 January 2021

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7 January 2021

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Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes

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10.1016/J.YMGME.2004.04.004

7 January 2021

Identifiers

DOI

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15 January 2018

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15 January 2018