Sebile Kılavuz

Ihlas Marmara Evleri - I. Kisim, Turkey

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 34 publications

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

A rare coexistence: tyrosinemia type III and Wolff-Parkinson-White syndrome.

A rare coexistence: tyrosinemia type III and Wolff-Parkinson-White syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 02, 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

Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI.

Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 23, 2025

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Journal: Orphanet journal of rare diseases

Published: November 18, 2025

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.

Journal: Molecular genetics and metabolism

Published: August 25, 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

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.

Journal: Sisli Etfal Hastanesi tip bulteni

Published: December 22, 2024

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Journal: Orphanet journal of rare diseases

Published: November 18, 2024

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

Journal: European journal of endocrinology

Published: October 18, 2024

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Journal: The Turkish journal of pediatrics

Published: July 09, 2024

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Journal: Turkish journal of medical sciences

Published: May 23, 2024

Showing 1-12 of 34

Last Updated: 09/26/2026