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Comment on the “NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure”

Journal of pediatric gastroenterology and nutrition, 2022-05, Vol.74 (5), p.e130-e130

2022

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Oral health status of children and young adults with maple syrup urine disease in Turkey

BMC oral health, 2021-01, Vol.21 (1), p.8-8, Article 8

2021

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Cu(I)-N-heterocyclic carbene complexes bearing a naphthyl substituent: synthesis, characterization, and antimicrobial activities

Journal of coordination chemistry, 2023-08, Vol.76 (13-15), p.1745-1762

2023

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Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers”

Journal of neurology, 2020-04, Vol.267 (4), p.1209-1210

2020

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Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Journal of human genetics, 2013-10, Vol.58 (10), p.675-678

2013

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Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Journal of pediatric endocrinology & metabolism : JPEM, 2020-05, Vol.33 (6), p.721

2020

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COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

Molecular genetics and metabolism, 2023-06, Vol.139 (2), p.107607-107607, Article 107607

2023

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Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

European journal of pediatrics, 2020-07, Vol.179 (7), p.1107-1114

2020

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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Pediatric neurology, 2019-10, Vol.99, p.69-75

2019

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Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

CEN case reports, 2024-04, Vol.13 (2), p.81-85

2024

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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic brain disease, 2021-08, Vol.36 (6), p.1405-1410

2021

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Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

Neuromuscular disorders : NMD, 2018-09, Vol.28 (9), p.787-790

2018

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Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

Turkish journal of pediatrics, 2012-07, Vol.54 (4), p.409-412

2012

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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

European journal of paediatric neurology, 2024-03, Vol.49, p.66-72

2024

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Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108117-108117, Article 108117

2024

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Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

European journal of pediatrics, 2015-08, Vol.174 (8), p.1077-1084

2015

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Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Journal of clinical research in pediatric endocrinology, 2022-09, Vol.14 (3), p.275-286

2022

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The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

Journal of pediatric endocrinology & metabolism : JPEM, 2019-10, Vol.32 (10), p.1049

2019

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A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome

Turkish journal of pediatrics, 2011-01, Vol.53 (1), p.79-82

2011

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Coexistence of cystic fibrosis with other genetic disorders: A case series

Pediatric pulmonology, 2023-01, Vol.58 (1), p.345-347

2023

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2037-2044

2007

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Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

European journal of medical genetics, 2020-11, Vol.63 (11), p.104032-104032, Article 104032

2020

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Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.705-712

2020

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Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

The journal of pediatric research, 2021-06, Vol.8 (2), p.195-201

2021

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Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Balkan medical journal, 2022-09, Vol.39 (5), p.345-350

2022

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Comment on the “NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure”

Oral health status of children and young adults with maple syrup urine disease in Turkey

Cu(I)-N-heterocyclic carbene complexes bearing a naphthyl substituent: synthesis, characterization, and antimicrobial activities

Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers”

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome

Coexistence of cystic fibrosis with other genetic disorders: A case series

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

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