Literature DB >> 6434851

4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.

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

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Year:  1984        PMID： 6434851

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


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  9 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.  Inhibition of rat brain lipid synthesis in vitro by 4-hydroxybutyric acid.

Authors:  A R Silva; C Ruschel; C Helegda; A M Brusque; C M Wannmacher; M Wajner; C S Dustra-Filho
Journal:  Metab Brain Dis       Date:  1999-09       Impact factor: 3.584

4.  Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria.

Authors:  K M Gibson; L Sweetman; W L Nyhan; P Bowen
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

5.  Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

Authors:  Savita Verma Attri; Pratibha Singhi; Natrujee Wiwattanadittakul; Jyotindra N Goswami; Naveen Sankhyan; Gajja S Salomons; Jean-Baptiste Roullett; Ryan Hodgeman; Mahsa Parviz; K Michael Gibson; Phillip L Pearl
Journal:  JIMD Rep       Date:  2016-11-05

6.  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

7.  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

8.  Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.

Authors:  G K Brown; C H Cromby; N J Manning; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

9.  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
  9 in total

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