NDLI: Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

Content Provider	Scilit
Author	Lemes, Aida Blasi, Paola Gonzales, Gabriel Russi, Maria E. Quadrelli, Roberto Novelletto, Andrea Malaspina, Patrizia
Copyright Year	2006
Description	Journal: Journal of Inherited Metabolic Disease We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.
Ending Page	587
Starting Page	587
ISSN	00221295
e-ISSN	15732665
DOI	10.1007/s10545-006-0277-0
Journal	Journal of Inherited Metabolic Disease
Issue Number	4
Volume Number	29
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2006-06-19
Access Restriction	Open
Subject Keyword	Journal: Journal of Inherited Metabolic Disease Medical Laboratory Technology
Content Type	Text
Resource Type	Article
Subject	Physiology

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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family