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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
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.
📌 3 Key Takeaways
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Objective & Hypothesis:A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented.
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Key Findings & Data:His symptoms were restricted to skeletal muscle.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
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.
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Cite This Article
AYDINLI, N., ÇALIŞKAN, M., YILMAZ, Y., SERDAROĞLU, P., ÖZMEN, M. (2022). Late infantile acid maltase deficiency ( A case report ). Turkish Journal of Pediatrics, Cilt: 41 - Sayı: 1, 121–125. https://ajindex.com/articles/613429