İrem Kaplan
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View article: Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study Open
Background/Objectives: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder characterized by progressive neurologic and extra-neurologic findings. We aimed to explore the age at symptom onset and at diagnosis as well a…
View article: Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease
Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease Open
Purpose: This study aims to investigate genotype–phenotype correlations in a cohort of 44 patients diagnosed with Infantile-onset Pompe disease (IOPD) Materials and Methods: This retrospective study analyzed the clinical and genetic charac…
View article: Nutritional management in MNGIE disease: A case report
Nutritional management in MNGIE disease: A case report Open
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder characterized by thymidine phosphorylase deficiency. The progressive course of MNGIE increases the importance of early diagnosis…