1 results match your criteria: "Tochigi Medical Center Shimotsuga General Hospital[Affiliation]"
Eur Spine J
May 2014
Department of Orthopedics, Tochigi Medical Center Shimotsuga General Hospital, 5-32, Fujimicho, Tochigi-shi, Tochigi, 328-8505, Japan,
Purpose: Galactosialidosis is an autosomal recessive lysosomal storage disease caused by deficiency of both α-neuraminidase and β-galactosidase due to a defect of the protective protein/cathepsin A. Three clinical subtypes have been described, depending on the age of onset and severity of the symptoms: the early infantile, late infantile and juvenile/adult form. We report an adult-type patient who underwent surgery for galactosialidosis-related spinal deformity, and showed a favorable course thereafter.
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