✦ LIBER ✦

Clinical and biochemical heterogeneity of globoid cell leukodystrophy

✍ Scribed by Dr. Donald F. Farrell; Kathy Swedberg

Publisher: John Wiley and Sons
Year: 1981
Tongue: English
Weight: 405 KB
Volume: 10
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410100408

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetics of Krabbe disease (gl

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

✍ David A. Wenger; Mohammad A. Rafi; Paola Luzi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 2 views

Galactocerebrosidase (GALC) is a lysosomal b-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also call

Molecular basis of late-life globoid cel

Molecular basis of late-life globoid cell leukodystrophy

✍ Rita De Gasperi; Miguel A. Gama Sosa; Edi Sartorato; Stefania Battistini; Sriniv 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 318 KB 👁 2 views

Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of G

Clinical and neuroradiological findings

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

✍ Barone, R.; Brühl, K.; Stoeter, P.; Fiumara, A.; Pavone, L.; Beck, M. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 1 views

In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide P-galactoside deficiency. T w o presented as the classic infantile form and died within the second year of l

L-cycloserine slows the clinical and pat

L-cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice)

✍ Steven M. LeVine; Tetyana V. Pedchenko; Illya G. Bronshteyn; David M. Pinson 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB 👁 1 views

Globoid cell leukodystrophy (Krabbe's disease) is an autosomal recessive disease that affects the lysosomal enzyme galactosylceramidase. Galactosylceramidase removes galactose from galactosylceramide and psychosine, which are derived from sphingosine. In the present study, L-cycloserine (an inhibito

Clinical and genetic heterogeneity of Se

Clinical and genetic heterogeneity of Seckel syndrome

✍ Faivre, L. ;Le Merrer, M. ;Lyonnet, S. ;Plauchu, H. ;Dagoneau, N. ;Campos-Xavier 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 2 views

Genetic and clinical heterogeneity of St

Genetic and clinical heterogeneity of Stickler syndrome

✍ Vintiner, Gillian M. ;Temple, I. Karen ;Middleton-Price, Helen R. ;Baraitser, Mi 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 494 KB 👁 2 views

We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2Al has been implicated as a