Infantile type 2 sialidosis in a Pakistani family — a clinical and biochemical study
✍ Scribed by M. King; F. Cockburn; G. B. MacPhee; R. W. Logan
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 860 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Non‐syndromic syndactylies have been classified into five major types (I–V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI–VIII) were defined. Type VII, the Cenani–Lenz syndactyly, is the only non‐syndromic,
Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonia, massive edema, a flattened coarse facies, telangiect
Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase