Abstract:Aim. To demonstrate a clinical case of orphan hereditary disease from the group of lysosomal storage diseases - Pompe disease (glycogenosis type II) in a five-year child. Materials and methods. Anamnestic data, clinical and laboratory parameters and treatment of a five-year child with Pompe disease. The patient was observed in the gastroenterological department of the Children’s Regional Clinical Hospital. Results. Child admitted with complaints of muscle weakness, difficulty climbing stairs, rare headaches. A… Show more
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