Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients
✍ Scribed by M Barbosa; A Lopes; C Mota; E Martins; J Oliveira; S Alves; P De Bonis; M do Céu Mota; C Dias; P Rodrigues-Santos; AM Fortuna; D Quelhas; L Lacerda; L Bisceglia; ML Cardoso
- Book ID
- 110889235
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 567 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0009-9163
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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
## Abstract For Abstract see ChemInform Abstract in Full Text.