𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis

✍ Scribed by A. Pekrun; B. A. Neubauer; S. W. Eber; M. Lakomek; H. Seidel; W. Schröter


Book ID
115091667
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
947 KB
Volume
47
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Prenatal diagnosis of heterozygosity for
✍ R. J. Pomponio; J. Hymes; A. Pandya; B. Landa; P. Melone; R. Javaheri; R. Mardac 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB 👁 2 views

Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is h