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Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

✍ Scribed by Artigalás, Osvaldo; Lagranha, Valeska Lizzi; Saraiva-Pereira, Maria Luiza; Burin, Maira Graeff; Lourenço, Charles Marques; Linden, Hélio; Santos, Mara Lúcia Ferreira; Rosemberg, Sergio; Steiner, Carlos Eduardo; Kok, Fernando; Souza, Carolina F. Moura; Jardim, Laura B.; Giugliani, Roberto; Schwartz, Ida Vanessa


Book ID
125356660
Publisher
Springer
Year
2010
Tongue
English
Weight
158 KB
Volume
33
Category
Article
ISSN
0141-8955

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Occurrence, distribution, and phenotype
✍ 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