## Communicated by JΓΌrgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency
β Scribed by Olimpia Musumeci; Mohammed Aguennouz; Giacomo Pietro Comi; Carmelo Rodolico; Massimo Autunno; Andreina Bordoni; Silvia Baratta; Franco Taroni; Giuseppe Vita; Antonio Toscano
- Book ID
- 116792845
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 102 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0960-8966
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Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from M