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
New mutations in two Dutch patients with early infantile galactosialidosis
✍ Scribed by J Groener; P Maaswinkel-Mooy; V Smit; M.v.d Hoeven; J Bakker; Y Campos; A d’Azzo
- Book ID
- 117735484
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 347 KB
- Volume
- 78
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and beta-galactosidase secondary to the genetic deficiency of cathepsin A/protective protein. In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-gal
Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: a496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498CÃG, a silent mutation. The mat