Esra Kara
YOU?
Author Swipe
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: Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?
Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep? Open
Background: Phenylketonuria (PKU) is an inherited metabolic disorder that requires early diagnosis and strict phenylalanine (Phe)-restricted diet to prevent neurocognitive impairment. Various infant feeding models have been used to achieve…
View article: Clinical features and rare complications in 132 patients with hepatic glycogenosis
Clinical features and rare complications in 132 patients with hepatic glycogenosis Open
Background Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes—types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) a…
View article: A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics Open
Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Diagnosis and prompt initiation of appropriate treatment shortly after …