Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α-l-iduronidase activity
✍ Scribed by K. Ullrich; H. Gröbe; K. von Figura; J. J. Hopwood; V. Muller
- Book ID
- 105519314
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 187 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA). Mutations in the gene are responsible for the enzyme deficiency, which leads to the intralysosomal storage of the partially degraded glycosaminoglycans derm
## Abstract A stable spheroplast type L‐form could be isolated by transferring 627 single colonies and 195 agar blocks with several colonies of unstable L‐forms of __Proteus mirabilis__ D 52 on agar media without supplements of penicillin. The L‐form grows well on complex and synthetic agar media,