Literature DB >> 7609441

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

G Uziel1, P Bardelli, C Pantaleoni, M Rimoldi, M Savoiardo.   

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Year:  1993        PMID： 7609441     DOI： 10.1007/BF00711670

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


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  6 in total

1.  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

2.  Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

Authors:  K M Gibson; D C DeVivo; C Jakobs
Journal:  Lancet       Date:  1989-11-04       Impact factor: 79.321

3.  Vigabatrin in GABA metabolism disorders.

Authors:  J Jaeken; P Casaer; P de Cock; B Francois
Journal:  Lancet       Date:  1989-05-13       Impact factor: 79.321

4.  Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.

Authors:  F R Sweetman; K M Gibson; L Sweetman; W L Nyhan; H Chin; W Swartz; O W Jones
Journal:  Prenat Diagn       Date:  1986 May-Jun       Impact factor: 3.050

5.  Purification and properties of two succinate semialdehyde dehydrogenases from human brain.

Authors:  C D Cash; M Maitre; L Ossola; P Mandel
Journal:  Biochim Biophys Acta       Date:  1978-05-11

6.  Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.

Authors:  S Di Donato; F E Frerman; M Rimoldi; P Rinaldo; F Taroni; U N Wiesmann
Journal:  Neurology       Date:  1986-07       Impact factor: 9.910
  6 in total
  4 in total

Review 1.  Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors:  Kara R Vogel; Phillip L Pearl; William H Theodore; Robert C McCarter; Cornelis Jakobs; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2012-06-28       Impact factor: 4.982

2.  Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

Authors:  K M Gibson; C Jakobs; H Ogier; L Hagenfeldt; K E Eeg-Olofsson; O Eeg-Olofsson; F Aksu; H P Weber; E Rossier; B Vollmer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).

Authors:  D Matern; W Lehnert; K M Gibson; R Korinthenberg
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Authors:  K M Gibson; C Baumann; H Ogier; E Rossier; B Vollmer; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  4 in total

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