Concepedia

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

Ronny Jung, Anita Rauch, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, K. Michael Gibson, Ehrenfried Lachmann, Jörn Oliver Sass, Udo Trautmann, Christiane Zweier,

Molecular Genetics and Metabolism · 2006 · 34 citations · 21 references

DOI

Concepts

References

21

Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

Vincent M. Riccardi, Eva Sujansky, Ann C. M. Smith et al. · PEDIATRICS · 1978 · 730 citations

, , +15

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

Uta Francke, Lewis B. Holmes, L. Atkins et al. · Cytogenetics and Cell Genetics · 2008 · 400 citations

, , +16

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

J Hempel, Hugh B. Nicholas, Ronald Lindahl · Protein Science · 1993 · 176 citations · Full text

, , +16

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

Cornelis Jakobs, Monika Bojasch, E. Mönch et al. · Clinica Chimica Acta · 1981 · 174 citations

, , +6

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

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto et al. · Human Mutation · 2003 · 143 citations · Full text

, , +17