Literature DB >> 1444568

Diagnosis and management of inborn errors of metabolism--an update.

J E Wraith1.   

Abstract

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Year:  1992        PMID： 1444568      PMCID： PMC1590449          DOI： 10.1136/adc.67.10_spec_no.1231

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  3 in total

Review 1.  Diagnosis and management of inborn errors of metabolism.

Authors:  J E Wraith
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791

2.  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.

Authors:  N Gregersen; A I Blakemore; V Winter; B Andresen; S Kølvraa; L Bolund; D Curtis; P C Engel
Journal:  Clin Chim Acta       Date:  1991-11-09       Impact factor: 3.786

3.  Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations.

Authors:  M H Tulinius; E Holme; B Kristiansson; N G Larsson; A Oldfors
Journal:  J Pediatr       Date:  1991-08       Impact factor: 4.406
  3 in total

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