Literature DB >> 7641783

Sudden infant death and multiple acyl-CoA dehydrogenation disorders.

R Parini, C Vegni, J Martini, A Romeo, B Garavaglia.   

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Year:  1995        PMID： 7641783     DOI： 10.1007/bf02072123

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


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  6 in total

Review 1.  Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death.

Authors:  R J Pollitt
Journal:  Padiatr Padol       Date:  1993

2.  Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.

Authors:  C R Roe; D S Millington; D A Maltby; P Kinnebrew
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

3.  Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

Authors:  R G Boles; S K Martin; M G Blitzer; P Rinaldo
Journal:  Hum Pathol       Date:  1994-08       Impact factor: 3.466

4.  Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.

Authors:  J P Harpey; C Charpentier; M Coudé; P Divry; M Paturneau-Jouas
Journal:  J Pediatr       Date:  1987-06       Impact factor: 4.406

5.  Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.

Authors:  I Colombo; G Finocchiaro; B Garavaglia; N Garbuglio; S Yamaguchi; F E Frerman; B Berra; S DiDonato
Journal:  Hum Mol Genet       Date:  1994-03       Impact factor: 6.150

6.  Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.

Authors:  S Di Donato; B Garavaglia; P Strisciuglio; C Borrone; G Andria
Journal:  Neurology       Date:  1988-07       Impact factor: 9.910
  6 in total
  2 in total

1.  Sudden infant death and lysinuric protein intolerance.

Authors:  J B de Klerk; M Duran; J G Huijmans; G M Mancini
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

2.  ETHE1 mutations are specific to ethylmalonic encephalopathy.

Authors:  V Tiranti; E Briem; E Lamantea; R Mineri; E Papaleo; L De Gioia; F Forlani; P Rinaldo; P Dickson; B Abu-Libdeh; L Cindro-Heberle; M Owaidha; R M Jack; E Christensen; A Burlina; M Zeviani
Journal:  J Med Genet       Date:  2005-09-23       Impact factor: 6.318
  2 in total

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