Literature DB >> 10234622

Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment.

H Peters1, M Cleary, A Boneh.   

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Year:  1999        PMID: 10234622     DOI: 10.1023/a:1005439111908

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


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  3 in total

Review 1.  4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.

Authors:  K M Gibson; G F Hoffmann; A K Hodson; T Bottiglieri; C Jakobs
Journal:  Neuropediatrics       Date:  1998-02       Impact factor: 1.947

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.  The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Authors:  K M Gibson; E Christensen; C Jakobs; B Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; D Matern; O F Brouwer; J Finkelstein; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; D Rabier; C Santos; W Lehnert
Journal:  Pediatrics       Date:  1997-04       Impact factor: 7.124

  3 in total
  1 in total

1.  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
  1 in total

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