Ayca B. Kahraman

Konya, Turkey

Last Updated: 09/26/2026

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Found 33 publications

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Journal: Neuropediatrics

Published: July 08, 2026

Association of Fat-free Mass Index and Body Mass Index on Pulmonary Function Tests in Children with Rheumatological Disease-associated Interstitial Lung Disease.

Association of Fat-free Mass Index and Body Mass Index on Pulmonary Function Tests in Children with Rheumatological Disease-associated Interstitial Lung Disease.

Journal: Klinische Padiatrie

Published: May 26, 2026

Auditory function at birth in infants with biotinidase deficiency.

Auditory function at birth in infants with biotinidase deficiency.

Journal: International journal of pediatric otorhinolaryngology

Published: January 28, 2026

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Journal: Journal of inherited metabolic disease

Published: December 22, 2025

Diagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis.

Diagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis.

Journal: Pediatric radiology

Published: December 02, 2025

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Journal: Turkish archives of pediatrics

Published: September 17, 2025

Toxic Storm Defused: Successful Use of Plasmapheresis and Continuous Renal Replacement Therapy in Propionic Acidemia.

Toxic Storm Defused: Successful Use of Plasmapheresis and Continuous Renal Replacement Therapy in Propionic Acidemia.

Journal: Klinische Padiatrie

Published: September 16, 2025

A reply to the letter: comment on "newborn screening programs promote vaccine acceptance among parents in Turkey".

A reply to the letter: comment on "newborn screening programs promote vaccine acceptance among parents in Turkey".

Journal: Postgraduate medicine

Published: June 06, 2025

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Journal: Molecular syndromology

Published: May 26, 2025

Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study.

Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study.

Journal: Postgraduate medicine

Published: May 10, 2025

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Journal: European journal of pediatrics

Published: March 30, 2025

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia.

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia.

Journal: Molecular genetics and metabolism reports

Published: February 08, 2025

Showing 1-12 of 33

Last Updated: 09/26/2026