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A new lysosomal storage disorder resembling Morquio syndrome in sibs

✍ Scribed by Laurence Perrin; Odile Fenneteau; Brice Ilharreborde; Yline Capri; Marion Gérard; Emmanuel Bui Quoc; Sandrine Passemard; Jamal Ghoumid; Catherine Caillaud; Roseline Froissart; Anne-Claude Tabet; Sophie Lebon; Vincent El Ghouzzi; Keyvan Mazda; Alain Verloes

Book ID
116433451
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
756 KB
Volume
55
Category
Article
ISSN
1769-7212

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Progressive extrapyramidal disorder with
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: A new syndrome?
✍ Devriendt, Koenraad; Legius, Eric; Fryns, Jean Pierre 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary hypogonadism. To our knowledge, this syndrome has not been reported, and probably represents a newly recognize