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Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

✍ Scribed by M. Jackson; P. Clayton; S. Grunewald; G. Keir; K. Mills; P. Mills; B. Winchester; V. Worthington; E. Young


Publisher
Springer
Year
2005
Tongue
English
Weight
85 KB
Volume
28
Category
Article
ISSN
0141-8955

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Functional analysis of three splicing mu
✍ Ana I. Vega; Celia PΓ©rez-CerdΓ‘; Lourdes R. Desviat; Gert Matthijs; Magdalena Uga πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 314 KB

The congenital disorders of glycosylation (CDG) are a group of diseases caused by genetic defects affecting N-glycosylation. The most prevalent form of CDG-type Ia-is caused by defects in the PMM2 gene. This work reports the study of two new nucleotide changes (c.256-1G>C and c.640-9T>G) identified