๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

First trimester prenatal exclusion of biotinidase deficiency

โœ Scribed by R. A. Chalmers; J. Mistry; P. W. Docherty; D. Stratton


Book ID
104900408
Publisher
Springer
Year
1994
Tongue
English
Weight
118 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Prenatal exclusion of purine nucleoside
โœ E. Carapella Luca; M. Stegagno; C. Dionisi Vici; R. Paesano; L. D. Fairbanks; G. ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› Springer ๐ŸŒ English โš– 261 KB

We report on the prenatal exclusion of purine nucleoside phosphorylase (PNP) deficiency in a fetus whose parents were known to be heterozygotes for the enzyme defect. Prenatal investigation was performed in the 16th week of gestation on amniotic fluid and cultured amnion cells using sensitive techni

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CR
โœ MARIANNE SCHWARTZ; SVEN KREIBORG; FLEMMING SKOVBY ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 479 KB ๐Ÿ‘ 2 views

Crouzon syndrome, one of the best known of many craniofacial syndromes, is an autosomal dominant disorder characterized by craniosynostosis, prominent eyes, and midfacial hypoplasia due to abnormal development and premature fusion of the skull. Recently mutations in the fibroblast growth factor rece