Literature DB >> 2029787

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

K M Gibson, C F Lee, K L Chambliss, V Kamali, B Francois, J Jaeken, C Jakobs.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 2029787     DOI： 10.1016/0009-8981(91)90076-o

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


× No keyword cloud information.
  22 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

2.  GABAB-ergic motor cortex dysfunction in SSADH deficiency.

Authors:  Janine Reis; Leonardo G Cohen; Phillip L Pearl; Brita Fritsch; Nikolai H Jung; Irene Dustin; William H Theodore
Journal:  Neurology       Date:  2012-06-20       Impact factor: 9.910

3.  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

4.  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

5.  4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.

Authors:  M M C Wamelink; B Roos; E E W Jansen; M F Mulder; K M Gibson; C Jakobs
Journal:  Mol Genet Metab       Date:  2010-10-07       Impact factor: 4.797

6.  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

7.  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

8.  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

9.  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

Review 10.  Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Authors:  Patrizia Malaspina; Matthew J Picklo; C Jakobs; O Carter Snead; K Michael Gibson
Journal:  Hum Genomics       Date:  2009-01       Impact factor: 4.639
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.