Publications by authors named "Halid Isık"
Article Synopsis
- Pompe disease is a genetic disorder characterized by the accumulation of glycogen in lysosomes due to a deficiency in the enzyme lysosomal acid α-glucosidase, inherited in an autosomal recessive manner.
- The case reports an 8-month-old girl from Turkish parents with the infantile form of Pompe disease, who exhibited an unexpectedly progressive clinical course.
- Two uncommon homozygous mutations were identified in the patient (c.32-13 T > G and c.1856G > A), highlighting a rare genetic combination within this family.
