Search Results - "Koseci, Burcu"
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Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
Published in American journal of medical genetics. Part A (01-06-2024)“…Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic…”
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Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-10-2021)“…Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia…”
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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis
Published in European journal of medical genetics (01-06-2023)“…Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been…”
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Evaluation of bone health in patients with mucopolysaccharidosis
Published in Journal of bone and mineral metabolism (01-05-2022)“…Introduction This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D 3…”
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Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria
Published in Journal of paediatrics and child health (01-11-2023)“…Aim Phenylketonuria (PKU) is an inherited metabolic disorder in which accumulation of phenylalanine (Phe) leads to poor neurological outcomes without…”
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OP-122 Mucopolysaccharidosis type II in turkey from the east to the west
Published in BMJ paediatrics open (11-07-2024)“…AimThe aims of reporting these cases were to better characterise the phenotypic and genotypic features of a large group of Turkish Mucopolysaccharidosis type…”
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