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Molecular and Clinical Characterisation of Homocystinuria in Two Austrian Families with Cystathionine β-Synthase Deficiency

✍ Scribed by Ursula Tröndle; G. Sunder-Plassmann; H. Burgmann; Heidi Buchmayer; L. Kramer; CH. Bieglmayer; W. H. Hörl; Manuela Födinger


Book ID
114440443
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
295 KB
Volume
28
Category
Article
ISSN
0303-8173

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Cystathionine beta-synthase (CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. Patients not treated in infancy have multi-systems disorders including dislocated lenses, mental deficiency, osteoporosis, premature arteriosclerosis, and t