Literature DB >> 7564230

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

K M Gibson1, C Jakobs, H Ogier, L Hagenfeldt, K E Eeg-Olofsson, O Eeg-Olofsson, F Aksu, H P Weber, E Rossier, B Vollmer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7564230     DOI： 10.1007/BF00711750

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


× No keyword cloud information.
  8 in total

1.  4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

Authors:  K M Gibson; C F Lee; K L Chambliss; V Kamali; B Francois; J Jaeken; C Jakobs
Journal:  Clin Chim Acta       Date:  1991-02-15       Impact factor: 3.786

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.  Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.

Authors:  R M Kok; D W Howells; C C van den Heuvel; W S Guérand; G N Thompson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  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

5.  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

6.  Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.

Authors:  K M Gibson; S Aramaki; L Sweetman; W L Nyhan; D C DeVivo; A K Hodson; C Jakobs
Journal:  Biomed Environ Mass Spectrom       Date:  1990-02

7.  4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

Authors:  G Uziel; P Bardelli; C Pantaleoni; M Rimoldi; M Savoiardo
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

Authors:  K L Chambliss; C F Lee; H Ogier; D Rabier; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  8 in total
  17 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

Review 2.  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

3.  Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.

Authors:  S S Johansen; X Wang; D Sejer Pedersen; P L Pearl; J-B Roullet; G R Ainslie; K R Vogel; K M Gibson
Journal:  JIMD Rep       Date:  2017-02-18

4.  Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.

Authors:  K M Gibson; A E Doskey; D Rabier; C Jakobs; C Morlat
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.

Authors:  Elena Vanadia; K Michael Gibson; Phillip L Pearl; Emanuele Trapolino; Salvatore Mangano; Francesca Vanadia
Journal:  JIMD Rep       Date:  2012-08-22

6.  Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Authors:  M Casarano; M G Alessandrì; G S Salomons; E Moretti; C Jakobs; K M Gibson; G Cioni; R Battini
Journal:  JIMD Rep       Date:  2011-09-06

7.  Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Authors:  I Knerr; P L Pearl; T Bottiglieri; O Carter Snead; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2007-04-24       Impact factor: 4.982

8.  Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Authors:  Ina Knerr; K Michael Gibson; Cornelis Jakobs; Phillip L Pearl
Journal:  CNS Spectr       Date:  2008-07       Impact factor: 3.790

9.  Transcriptome analysis in mice treated with vigabatrin identifies dysregulation of genes associated with retinal signaling circuitry.

Authors:  Dana Walters; Kara R Vogel; Madalyn Brown; Xutong Shi; Jean-Baptiste Roullet; K Michael Gibson
Journal:  Epilepsy Res       Date:  2020-06-20       Impact factor: 3.045

10.  Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Authors:  E E Jansen; K R Vogel; G S Salomons; P L Pearl; J-B Roullet; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2016-09-29       Impact factor: 4.982
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.