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Literature DB >> 2122097

The first adult case with 4-hydroxybutyric aciduria.

C Jakobs¹, L M Smit, J Kneer, T Michael, K M Gibson.

Abstract

Mesh：

Substances：
Sodium Oxybate

Year: 1990 PMID： 2122097 DOI： 10.1007/bf01799390

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

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7 in total

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

Authors: K M Gibson; S I Goodman; F E Frerman; A M Glasgow
Journal: J Pediatr Date: 1989-04 Impact factor: 4.406

2. 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

3. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.

Authors: D Rating; F Hanefeld; H Siemes; J Kneer; C Jakobs; M Hermier; P Divry
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

4. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.

Authors: C Jakobs; J Kneer; D Rating; F Hanefeld; P Divry; M Hermier
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

5. 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

6. 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

7. Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.

Authors: P P Pattarelli; W L Nyhan; K M Gibson
Journal: Pediatr Res Date: 1988-10 Impact factor: 3.756

7 in total

11 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. 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. 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

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. 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

6. 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

7. 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