Literature DB >> 3106721

Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.

M J Bennett, R J Pollitt, J M Land, M J Turner, C H Cheetham.   

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Year:  1987        PMID： 3106721     DOI： 10.1007/bf01799495

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


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  4 in total

1.  Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaricaciduria.

Authors:  J Boué; R A Chalmers; B M Tracey; D Watson; R G Gray; J W Keeling; G S King; B R Pettit; R H Lindenbaum; F Rocchiccioli
Journal:  Lancet       Date:  1984-04-14       Impact factor: 79.321

2.  Glutaric acidemia type II: a form with deleterious intrauterine effects.

Authors:  S I Goodman; M Reale; S Berlow
Journal:  J Pediatr       Date:  1983-03       Impact factor: 4.406

3.  Glutaric aciduria Type II.

Authors:  L Sweetman; W L Nyhan; D A Tauner; T A Merritt; M Singh
Journal:  J Pediatr       Date:  1980-06       Impact factor: 4.406

4.  Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

Authors:  N Böhm; J Uy; M Kiessling; W Lehnert
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183
  4 in total
  5 in total

1.  Vitreous humour organic acids in medium chain acyl-CoA dehydrogenase deficiency.

Authors:  G A Mills; V Walker; M R Ashton; N J Manning; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Authors:  Agnes Hackl; Katrin Mehler; Ingo Gottschalk; Anne Vierzig; Marcus Eydam; Jan Hauke; Bodo B Beck; Max C Liebau; Regina Ensenauer; Lutz T Weber; Sandra Habbig
Journal:  Pediatr Nephrol       Date:  2017-01-12       Impact factor: 3.714

3.  Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.

Authors:  M Coude; J P Bonnefont; C Charpentier; B Chadefaux; J M Saudubray; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 4.  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

5.  Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.

Authors:  M M Coude; C Charpentier; J P Bonnefont; G Cheron; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  5 in total

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