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kyphosis/carbohydrate
Povezava se shrani v odložišče
3 rezultatov
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available
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