Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity

Molecular Genetics and Metabolism

Volumn 88, Issue 3, 2006, Pages 256-260

  Jung, Ronny ^a   Rauch, Anita ^a   Salomons, Gajja S ^b   Verhoeven, Nanda M ^b   Jakobs, Cornelis ^b   Michael Gibson, K ^c   Lachmann, Ehrenfried ^d   Sass, Jörn Oliver ^e   Trautmann, Udo ^a   Zweier, Christiane ^a   Staatz, Gundula ^a   Knerr, Ina ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d Children and Youth Hospital   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Hydroxybutyric aciduria; Psychomotor retardation; Succinic semialdehyde dehydrogenase deficiency; WAGR WAGRO syndrome

Indexed keywords

4 AMINOBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; VIGABATRIN;

ANIRIDIA; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CHROMOSOME 11; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MUTATION; CLINICAL FEATURE; CONSERVATIVE TREATMENT; COURSE EVALUATION; DIAGNOSTIC APPROACH ROUTE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME ISOLATION; GABAERGIC SYSTEM; GLOBUS PALLIDUS; HUMAN; HYDROCEPHALUS; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NEPHROBLASTOMA; OBESITY; PHYSIOTHERAPY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; VISUAL FIELD DEFECT; WAGR SYNDROME;

CEREBELLUM; CHILD, PRESCHOOL; HUMANS; HYDROCEPHALUS; LEUKOCYTES; MALE; MUTATION, MISSENSE; OBESITY; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE; WAGR SYNDROME;

EID: 33745554388     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.02.003     Document Type: Article

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