𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

✍ Scribed by A Ługowska; J Berger; A Tylki-Szymańska; B Löschl; B Molzer; M Zobel; B Czartoryska

Book ID
110888054
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
119 KB
Volume
68
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Occurrence, distribution, and phenotype
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy
✍ Berger, Johannes; Löschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra

Coincidence of two novel arylsulfatase a
Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity
✍ Johannes Berger; Marion Gmach; Udo Mayr; Brunhilde Molzer; Hanno Bernheime 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings, apparently healthy at 12½ and 15 years, respectiv