✦ LIBER ✦

Prenatal diagnosis of Canavan disease — Problems and dilemmas

✍ Scribed by G. T. N. Besley; O. N. Elpeleg; A. Shaag; N. J. Manning; C. Jakobs; J. H. Walter

Book ID: 110225626
Publisher: Springer
Year: 1999
Tongue: English
Weight: 58 KB
Volume: 22
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005534105933

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of Canavan disease

✍ Reuben Matalon; Kimberlee Michals-Matalon 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB 👁 2 views

Prenatal diagnosis of canavan disease

✍ R. Matalon; K. Michals; P. Gashkoff; R. Kaul 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 165 KB

Prenatal diagnosis of Canavan disease

✍ C. Jakobs; H. J. ten Brink; P. Divry; M. O. Rolland 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 125 KB

First-trimester prenatal diagnosis of Ca

First-trimester prenatal diagnosis of Canavan disease

✍ M. O. Rolland; P. Divry; G. Mandon; J. M. Thoulon; A. Fiumara; M. Mathieu 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 138 KB

Prenatal diagnosis for Canavan disease:

Prenatal diagnosis for Canavan disease: the use of DNA markers

✍ R. Matalon; R. Kaul; G. P. Gao; K. Michals; R. G. F. Gray; S. Bennett-Briton; A. 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 162 KB

Biochemical diagnosis of Canavan disease

✍ G. Bartalini; M. Margollicci; P. Balestri; M. A. Farnetani; M. Cioni; A. Fois 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 261 KB

Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme