Literature DB >> 6133657

A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.

P Divry, P Baltassat, M O Rolland, J Cotte, M Hermier, M Duran, S K Wadman.   

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Year:  1983        PMID： 6133657     DOI： 10.1016/0009-8981(83)90033-5

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


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  9 in total

1.  Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Authors:  K M Gibson; L Sweetman; V Kozich; A Pijackova; A Tscharre; A Cortez; F Eyskens; C Jakobs; M Duran; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

Authors:  K M Gibson; I Jansen; L Sweetman; W L Nyhan; D Rating; C Jakobs; P Divry
Journal:  J Inherit Metab Dis       Date:  1984       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.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.

Authors:  K M Gibson; L Sweetman; W L Nyhan; G Lenoir; P Divry
Journal:  Eur J Pediatr       Date:  1984-09       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

Review 9.  Succinic Semialdehyde Dehydrogenase Deficiency: An Update.

Authors:  Miroslava Didiášová; Antje Banning; Heiko Brennenstuhl; Sabine Jung-Klawitter; Claudio Cinquemani; Thomas Opladen; Ritva Tikkanen
Journal:  Cells       Date:  2020-02-19       Impact factor: 6.600
  9 in total

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