Literature DB >> 2501591

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

M Coude1, J P Bonnefont, C Charpentier, B Chadefaux, J M Saudubray, P Kamoun.   

Abstract

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Year:  1989        PMID： 2501591     DOI： 10.1007/bf01805538

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


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  3 in total

1.  Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.

Authors:  M J Bennett; R J Pollitt; J M Land; M J Turner; C H Cheetham
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.

Authors:  R A Chalmers; A M Lawson; R W Watts
Journal:  Clin Chim Acta       Date:  1974-03       Impact factor: 3.786

3.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132
  3 in total
  3 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.  Inherited metabolic diseases in the sudden infant death syndrome.

Authors:  J B Holton; J T Allen; C A Green; S Partington; R E Gilbert; P J Berry
Journal:  Arch Dis Child       Date:  1991-11       Impact factor: 3.791

3.  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
  3 in total

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