Literature DB >> 8582415

Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.

A B Burlina, M J Bennett, N Gregersen, B Dalla Barba, F Zacchello.   

Abstract

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Year:  1995        PMID： 8582415     DOI： 10.1007/bf01957515

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  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

2.  Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; K H Carpenter; J Hammond
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

Review 3.  The enzymes of mitochondrial fatty acid oxidation.

Authors:  M J Bennett
Journal:  Clin Chim Acta       Date:  1994-05       Impact factor: 3.786

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

Authors:  A K Iafolla; R J Thompson; C R Roe
Journal:  J Pediatr       Date:  1994-03       Impact factor: 4.406

5.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Authors:  N Gregersen; V Winter; D Curtis; T Deufel; M Mack; J Hendrickx; P J Willems; A Ponzone; T Parrella; R Ponzone
Journal:  Hum Hered       Date:  1993 Nov-Dec       Impact factor: 0.444
  5 in total

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