Literature DB >> 2874456

A simple screening test for medium-chain acyl CoA dehydrogenase deficiency.

G Rumsby, J W Seakins, J V Leonard.   

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Year:  1986        PMID: 2874456     DOI: 10.1016/s0140-6736(86)92180-x

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  12 in total

1.  The detection of abnormal metabolites in MCAD deficiency: a new method.

Authors:  W Blom; A C Polder-Mol; H H Kelholt-Dijkman; L Hierck; J G Huijmans
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.

Authors:  C Catzeflis; C Bachmann; D E Hale; P M Coates; U Wiesmann; J P Colombo; F Joris; G Délèze
Journal:  Eur J Pediatr       Date:  1990-05       Impact factor: 3.183

Review 3.  Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.

Authors:  R Moore; D S Millington; D Norwood; N Kodo; P Robinson; J F Glasgow
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

5.  Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.

Authors:  R Santer; E Schmidt-Sommerfeld; Y K Leung; J E Fischer; E Lebenthal
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

6.  Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.

Authors:  J M Penzien; G Molz; U N Wiesmann; J P Colombo; R Bühlmann; B Wermuth
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

7.  The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.

Authors:  J F Glasgow; R Moore; P H Robinson; P J McKiernan
Journal:  Ir J Med Sci       Date:  1992-10       Impact factor: 1.568

8.  Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).

Authors:  A Green; M A Preece; C de Sousa; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

9.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.

Authors:  R Moore; J F Glasgow; M A Bingham; J A Dodge; R J Pollitt; S E Olpin; B Middleton; K Carpenter
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

Review 10.  Medium chain acyl-CoA dehydrogenase deficiency.

Authors:  E H Touma; C Charpentier
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791

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