Literature DB >> 2926573

Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.

K M Gibson1, S I Goodman, F E Frerman, A M Glasgow.   

Abstract

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Year:  1989        PMID： 2926573     DOI： 10.1016/s0022-3476(89)80706-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 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.  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

3.  Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Authors:  Ina Knerr; K Michael Gibson; Geoffrey Murdoch; Gajja S Salomons; Cornelis Jakobs; Susan Combs; Phillip L Pearl
Journal:  Pediatr Neurol       Date:  2010-04       Impact factor: 3.372

4.  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

Review 5.  γ-Hydroxybutyric Acid: Pharmacokinetics, Pharmacodynamics, and Toxicology.

Authors:  Melanie A Felmlee; Bridget L Morse; Marilyn E Morris
Journal:  AAPS J       Date:  2021-01-08       Impact factor: 4.009

6.  Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Authors:  K L Chambliss; D D Hinson; F Trettel; P Malaspina; A Novelletto; C Jakobs; K M Gibson
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025
  6 in total

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