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Biotinidase Deficiency: Prevalence, Impact And Management Strategies

Pediatric health, medicine and therapeutics, 2020-01, Vol.11, p.127-133

2020

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Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels

ACS omega, 2024-02, Vol.9 (7), p.7621-7633

2024

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Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine

The journal of pediatric research, 2022-12, Vol.9 (4), p.391-396

2022

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Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

Journal of clinical medicine, 2020-03, Vol.9 (3), p.788

2020

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Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

JIMD reports, 2022-09, Vol.63 (5), p.484-493

2022

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Tetrahydrobiopterin deficiencies: Lesson from clinical experience

JIMD reports, 2021-05, Vol.59 (1), p.42-51

2021

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An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

The journal of pediatric research, 2018-03, Vol.5 (1), p.12-16

2018

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SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100657-100657, Article 100657

2020

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Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

The journal of pediatric research, 2018-03, Vol.5 (1), p.28-33

2018

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False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

The journal of pediatric research, 2018-03, Vol.5 (1), p.17-21

2018

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Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

The journal of pediatric research, 2018-03, Vol.5 (1), p.1-6

2018

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Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients

Therapeutic apheresis and dialysis, 2012-12, Vol.16 (6), p.560-565

2012

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Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

The journal of pediatric research, 2019-06, Vol.6 (2), p.121-127

2019

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Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

The journal of pediatric research, 2018-03, Vol.5 (1), p.39-43

2018

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Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

The journal of pediatric research, 2018-03, Vol.5 (1), p.57-59

2018

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Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

The journal of pediatric research, 2018-03, Vol.5 (1), p.34-38

2018

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Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

The journal of pediatric research, 2018-03, Vol.5 (1), p.22-27

2018

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Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

The journal of pediatric research, 2018-03, Vol.5 (1), p.60-62

2018

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Fabry disease: An overlooked diagnosis in adult cardiac patients

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir, 2017-09, Vol.45 (6), p.549-555

2017

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Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance

Journal of inherited metabolic disease, 2024-04

2024

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A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

Case reports in pediatrics, 2017-01, Vol.2017, p.1045031-4

2017

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Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108144-108144, Article 108144

2024

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Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma

Pediatric dermatology, 2024-06

2024

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Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

Pediatric blood & cancer, 2023-07, Vol.70 (7), p.e30334-n/a

2023

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Biotinidase Deficiency: Prevalence, Impact And Management Strategies

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels

Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine

Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Fabry disease: An overlooked diagnosis in adult cardiac patients

Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma

Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

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