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Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

✍ Scribed by A Ługowska; P Wlodarski; R Płoski; H Mierzewska; M Dudzińska; A Matheisel; H Świętochowska; A Tylki-Szymańska


Book ID
110888712
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
130 KB
Volume
75
Category
Article
ISSN
0009-9163

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A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of