(Q48613581)

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

scientific article published on 20 March 2006

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18 January 2020

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

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18 January 2020

succinic semialdehyde dehydrogenase deficiency

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Christiane Zweier

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18 January 2020

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Anita Rauch

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18 January 2020

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Ronny Jung

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18 January 2020

Gajja S Salomons

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18 January 2020

Nanda M Verhoeven

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18 January 2020

Cornelis Jakobs

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18 January 2020

K Michael Gibson

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18 January 2020

Ehrenfried Lachmann

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18 January 2020

Jörn Oliver Sass

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18 January 2020

Udo Trautmann

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18 January 2020

Gundula Staatz

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18 January 2020

Ina Knerr

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18 January 2020

publication date

20 March 2006

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18 January 2020

Molecular Genetics and Metabolism

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18 January 2020

88

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18 January 2020

3

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18 January 2020

256-260

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18 January 2020

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

1 reference

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Inherited disorders of GABA metabolism

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Clinical aspects of the disorders of GABA metabolism in children

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Pediatric neurotransmitter diseases.

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

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Gamma-hydroxybutyric acid

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Vigabatrin in GABA metabolism disorders

1 reference

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Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

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Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria

1 reference

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Vigabatrin: longterm follow-up of electrophysiology and visual field examinations

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Peripheral retinal dysfunction in patients taking vigabatrin

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Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

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Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)

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7 January 2021

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.

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Population-based risk estimates of Wilms tumor in sporadic aniridia

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Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

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The genomic organization and expression of the WT1 gene

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Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben

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4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

1 reference

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7 January 2021

Aldehyde dehydrogenases: widespread structural and functional diversity within a shared framework

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Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

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7 January 2021

Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients

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Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency

1 reference

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Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).

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Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

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Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

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Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency

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Obesity and WAGR syndrome

1 reference

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7 January 2021

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10.1016/J.YMGME.2006.02.003

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18 January 2020

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18 January 2020

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