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Differences in the gut microbiota of healthy children and those with type 1 diabetes

Pediatrics international, 2014-06, Vol.56 (3), p.336-343

2014

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Altered immune response in organic acidemia

Pediatrics international, 2022-01, Vol.64 (1), p.e15082-n/a

2022

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Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy

Neurological sciences, 2022-03, Vol.43 (3), p.2051-2058

2022

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The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-338, Article 338

2022

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BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism

Frontiers in immunology, 2023-01, Vol.13, p.1082192-1082192

2023

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Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome

Pediatrics international, 2022-01, Vol.64 (1), p.e14938-n/a

2022

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Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey

Acta neurologica Belgica, 2019-09, Vol.119 (3), p.343-350

2019

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Mercury intoxication resembling pediatric rheumatic diseases: case series and literature review

Rheumatology international, 2020-08, Vol.40 (8), p.1333-1342

2020

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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

Frontiers in pediatrics, 2023-06, Vol.11, p.1113422-1113422

2023

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An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

Turkish Archives of Pediatrics, 2023-01, Vol.58 (1), p.3-9

2023

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Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100715-100715, Article 100715

2021

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Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

Turkish Archives of Pediatrics, 2023-07

2023

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Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

Turkish journal of pediatrics, 2019-01, Vol.61 (1), p.107-110

2019

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Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

Pediatrics international, 2015-04, Vol.57 (2), p.281-289

2015

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Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children

Children (Basel), 2019-04, Vol.6 (4), p.53

2019

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Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Annals of the Indian Academy of Neurology, 2015-10, Vol.18 (4), p.471-474

2015

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A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency

Nutrients, 2023-07, Vol.15 (14), p.3105

2023

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Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey

Nutrients, 2024-05, Vol.16 (10), p.1444

2024

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Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections

Clinical & experimental neuroimmunology, 2016-02, Vol.7 (1), p.79-82

2016

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Blood Pressure Variability in Fabry Disease Patients

Nephron (2015), 2022-07, Vol.146 (4), p.343-350

2022

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Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency

Indian pediatrics, 2014-09, Vol.51 (9), p.755

2014

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Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorder

Metabolic brain disease, 2023-12, Vol.38 (8), p.2645-2651

2023

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COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Journal of Pediatric Endocrinology and Metabolism, 2021-12, Vol.34 (12), p.1611-1614

2021

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Screening Inherited Metabolic Disorders in Patients with Familial Mediterranean Fever

The journal of pediatric research, 2015-12, Vol.2 (4), p.201-205

2015

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MO055THE IMPACT OF THE COVID-19 PANDEMIC ON MOOD STATUS AND TREATMENT ADHERENCE IN PATIENTS WITH FABRY DISEASE

Nephrology, dialysis, transplantation, 2021-05, Vol.36 (Supplement_1)

2021

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Differences in the gut microbiota of healthy children and those with type 1 diabetes

Altered immune response in organic acidemia

Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism

Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome

Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey

Mercury intoxication resembling pediatric rheumatic diseases: case series and literature review

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey

Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections

Blood Pressure Variability in Fabry Disease Patients

Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency

Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorder

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

Screening Inherited Metabolic Disorders in Patients with Familial Mediterranean Fever

MO055THE IMPACT OF THE COVID-19 PANDEMIC ON MOOD STATUS AND TREATMENT ADHERENCE IN PATIENTS WITH FABRY DISEASE

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