๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Prenatal diagnosis for Canavan disease: the use of DNA markers

โœ Scribed by R. Matalon; R. Kaul; G. P. Gao; K. Michals; R. G. F. Gray; S. Bennett-Briton; A. Norman; M. Smith; C. Jakobs


Publisher
Springer
Year
1995
Tongue
English
Weight
162 KB
Volume
18
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Prenatal diagnosis and carrier detection
โœ Jianjun Shen; Hui-Ming Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 53 KB ๐Ÿ‘ 2 views

Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult and have limited ability to distinguish a carrier from an affected patie

PRENATAL DIAGNOSIS OF X-LINKED MYOTUBULA
โœ LING-JIA HU; JOCELYN LAPORTE; WOLFRAM KRESS; NIKLAS DAHL ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 834 KB

X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to

Prenatal diagnosis of glycogen storage d
โœ Jianjun Shen; Hui-Ming Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 123 KB ๐Ÿ‘ 1 views

Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur