Fatma D. Bulut

Adana, Turkey

Last Updated: 09/26/2026

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Found 49 publications

Creatine Deficiency Syndromes: Clinical Spectrum, Neuroimaging Features and Treatment Response.

Creatine Deficiency Syndromes: Clinical Spectrum, Neuroimaging Features and Treatment Response.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: June 23, 2026

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Journal: Turkish archives of pediatrics

Published: May 05, 2026

Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.

Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.

Journal: Journal of clinical research in pediatric endocrinology

Published: March 09, 2026

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Journal: Journal of clinical lipidology

Published: February 07, 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

Correction to: When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children.

Correction to: When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children.

Journal: European journal of pediatrics

Published: December 19, 2025

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.

Journal: Molecular genetics and metabolism reports

Published: October 30, 2025

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

Journal: European journal of pediatrics

Published: October 22, 2025

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.

Journal: Diagnostics (Basel, Switzerland)

Published: September 30, 2025

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?

Journal: Nutrients

Published: August 17, 2025

First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.

First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 08, 2025

Neurological involvement in 51 cystinosis patients: A single-center experience.

Neurological involvement in 51 cystinosis patients: A single-center experience.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 01, 2025

Showing 1-12 of 49

Last Updated: 09/26/2026