Literature DB >> 2433500

Succinic semialdehyde dehydrogenase deficiency--a further case.

E A Haan, G K Brown, D Mitchell, D M Danks.   

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Year:  1985        PMID： 2433500     DOI： 10.1007/bf01819287

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


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  2 in total

1.  Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.

Authors:  C Jakobs; M Bojasch; E Mönch; D Rating; H Siemes; F Hanefeld
Journal:  Clin Chim Acta       Date:  1981-04-09       Impact factor: 3.786

2.  Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.

Authors:  K M Gibson; L Sweetman; W L Nyhan; C Jakobs; D Rating; H Siemes; F Hanefeld
Journal:  Clin Chim Acta       Date:  1983-09-15       Impact factor: 3.786
  2 in total
  10 in total

1.  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

2.  Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.

Authors:  J J Pitt; R Hawkins; M Cleary; M Eggington; D R Thorburn; L Warwick
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

3.  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

4.  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

5.  Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Authors:  Trevor Kirby; Dana C Walters; Madalyn Brown; Erwin Jansen; Gajja S Salomons; Coleman Turgeon; Piero Rinaldo; Erland Arning; Paula Ashcraft; Teodoro Bottiglieri; Jean-Baptiste Roullet; K Michael Gibson
Journal:  Metab Brain Dis       Date:  2020-03-14       Impact factor: 3.584

6.  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

7.  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

8.  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.  Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.

Authors:  Dana C Walters; Regan Lawrence; Trevor Kirby; Jared T Ahrendsen; Matthew P Anderson; Jean-Baptiste Roullet; Eric J Murphy; K Michael Gibson
Journal:  J Child Neurol       Date:  2021-02-09       Impact factor: 1.987

10.  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
  10 in total

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