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A case with early infantile form of galactosialidosis with unusual haematological findings

✍ Scribed by G. Tekinalp; D. Aliefendioğlu; A. Yüce; M. çağlar; M. Beck

Book ID
110226223
Publisher
Springer
Year
1999
Tongue
English
Weight
36 KB
Volume
22
Category
Article
ISSN
0141-8955

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## Abstract A case of Schwartz‐Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic f