Late infantile acid maltase deficiency - A case report

Caliskan M., Yilmaz Y., Serdaroglu P., Aydinli N., Ozmen M.

TURKISH JOURNAL OF PEDIATRICS, cilt.41, sa.1, ss.121-125, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 1
  • Basım Tarihi: 1999
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.121-125
  • İstanbul Üniversitesi Adresli: Hayır

Özet

A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented. His symptoms were restricted to skeletal muscle. There is commonly a correlation between the amount of residual acid maltase activity and the severity of the clinical picture. Although the residual enzyme level was very low in our patient, no progression of his neurological findings have been observed during the follow-up period of two years.