Literature DB >> 10518286

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.

K H Carpenter1, B Wilcken.   

Abstract

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Year:  1999        PMID： 10518286     DOI： 10.1023/a:1005566309942

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Authors:  M Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; L Ijlst; F J van Sprang
Journal:  Eur J Pediatr       Date:  1991-01       Impact factor: 3.183

2.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

Authors:  T Tyni; A Palotie; L Viinikka; L Valanne; M K Salo; U von Döbeln; S Jackson; R Wanders; N Venizelos; H Pihko
Journal:  J Pediatr       Date:  1997-01       Impact factor: 4.406

Review 3.  The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  R Pons; M Roig; E Riudor; A Ribes; P Briones; L Ortigosa; A Baldellou; J Gil-Gibernau; M Olesti; C Navarro; R J Wanders
Journal:  Pediatr Neurol       Date:  1996-04       Impact factor: 3.372
  3 in total
  2 in total

1.  Newborn screening in the Asia Pacific region.

Authors:  Carmencita D Padilla; Bradford L Therrell
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

2.  Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.

Authors: 
Journal:  Ont Health Technol Assess Ser       Date:  2003-05-01
  2 in total

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