Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/or missense mutations reducing proline oxidase (POX) activity. The goals o
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
β Scribed by Marlies J. Valstar; Sanne Neijs; Hennie T. Bruggenwirth; Renske Olmer; George J. G. Ruijter; Ron A. Wevers; Otto P. van Diggelen; Ben J. Poorthuis; Dicky J. Halley; Frits A. Wijburg
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 358 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0364-5134
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