Literature DB >> 8464836

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

C Jakobs, H Ogier, D Rabier, K M Gibson.   

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Year:  1993        PMID: 8464836     DOI: 10.1002/pd.1970130213

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


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  5 in total

1.  Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

Authors:  K L Chambliss; C F Lee; H Ogier; D Rabier; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Authors:  K M Gibson; C Baumann; H Ogier; E Rossier; B Vollmer; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 3.  Inherited disorders of GABA metabolism.

Authors:  C Jakobs; J Jaeken; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.

Authors:  Erwin E W Jansen; Eduard Struys; Cornelis Jakobs; Elizabeth Hager; O Carter Snead; K Michael Gibson
Journal:  BMC Dev Biol       Date:  2008-11-28       Impact factor: 1.978

5.  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

  5 in total

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