✦ LIBER ✦

Infantile sialic acid storage disease in two siblings

✍ Scribed by A. Cooper; I. B. Sardharwalla; M. Thornley; K. P. Ward

Publisher: Springer
Year: 1988
Tongue: English
Weight: 263 KB
Volume: 11
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01804252

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Infantile sialic acid storage disease: B

Infantile sialic acid storage disease: Biochemical studies

✍ Berra, B. ;Gornati, R. ;Rapelli, S. ;Gatti, R. ;Mancini, G. M. S. ;Ciana, G. ;Be 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 864 KB

Clinical spectrum of infantile free sial

Clinical spectrum of infantile free sialic acid storage disease

✍ Lemyre, Emmanuelle; Russo, Pierre; Melan�on, Serge B.; Gagn�, R.; Potier, Michel 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 2 views

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with differen

Prenatal diagnosis of infantile sialic a

Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy

✍ B. D. Lake; E. P. Young; K. Nicolaides 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 405 KB

Storage material from urine and tissues

Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease

✍ E. Paschke; W. Gruber; E. Ring; W. Sperl 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 986 KB

Lymphocytic vacuolization in sialic acid

Lymphocytic vacuolization in sialic acid storage disease

✍ Barıs Kuskonmaz; Sule Unal; Emine Cördükcü; Halil Aydin; Turgay Coskun; Aytemiz 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB

Biochemical and molecular analyses of in

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

✍ Kleta, Robert ;Aughton, David J. ;Rivkin, Michael J. ;Huizing, Marjan ;Strovel, 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB