Literature DB >> 6434852

4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.

C Jakobs, J Kneer, D Rating, F Hanefeld, P Divry, M Hermier.   

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Year:  1984        PMID: 6434852

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


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  6 in total

1.  The first adult case with 4-hydroxybutyric aciduria.

Authors:  C Jakobs; L M Smit; J Kneer; T Michael; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.

Authors:  C Jakobs; T Michael; E Jaeger; J Jaeken; K M Gibson
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

3.  4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

Authors:  K M Gibson; I Jansen; L Sweetman; W L Nyhan; D Rating; C Jakobs; P Divry
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.

Authors:  D R Thorburn; G N Thompson; D W Howells
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

Authors:  K M Gibson; G Hoffmann; W L Nyhan; S Aramaki; J A Thompson; S I Goodman; D A Johnson; R R Fife
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

6.  4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.

Authors:  W Onkenhout; P D Maaswinkel-Mooij; B J Poorthuis
Journal:  Eur J Pediatr       Date:  1989-12       Impact factor: 3.183

  6 in total

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