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Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study

Clinical neurology and neurosurgery, 2022-11, Vol.222, p.107474-107474, Article 107474

2022

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Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7

Clinical neurology and neurosurgery, 2022-09, Vol.220, p.107375, Article 107375

2022

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Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders

Pediatric nephrology (Berlin, West), 2022-06, Vol.37 (6), p.1387-1397

2022

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Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review

Journal of pediatric endocrinology & metabolism : JPEM, 2024-03, Vol.37 (3), p.260

2024

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Serum biotin interference: A troublemaker in hormone immunoassays

Clinical biochemistry, 2022-01, Vol.99, p.97-102

2022

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Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant

Clinical neurology and neurosurgery, 2023-07, Vol.230, p.107772, Article 107772

2023

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Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center

Brain & development (Tokyo. 1979), 2024-06, Vol.46 (6), p.213-218

2024

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Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Neurological sciences, 2021-03, Vol.42 (3), p.1103-1111

2021

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Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

Pediatric neurology, 2024-06, Vol.155, p.171-176

2024

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Status dystonicus associated with CLN8 disease

Brain & development (Tokyo. 1979), 2021-04, Vol.43 (4), p.571-575

2021

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Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

European journal of medical genetics, 2024-04, Vol.68, p.104927-104927, Article 104927

2024

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Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit

European journal of pediatrics, 2023-11, Vol.182 (11), p.4897-4908

2023

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Outcomes of Dyslipidemia Screening Program in School-aged Children

The journal of pediatric research, 2021-06, Vol.8 (2), p.155-160

2021

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Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index

Annals of clinical biochemistry, 2020-07, Vol.57 (4), p.291-299

2020

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Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

Journal of pediatric endocrinology & metabolism : JPEM, 2021-07, Vol.34 (7), p.947

2021

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Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene

Turkish journal of pediatrics, 2020-07, Vol.62 (4), p.652-656

2020

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Enhancement of Heterotrophic Biomass Production by Micractinium sp. ME05

Waste and biomass valorization, 2018-05, Vol.9 (5), p.811-820

2018

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Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.92-98

2020

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A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant

Molecular syndromology, 2022-02, Vol.13 (1), p.64-68

2022

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Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for

Pediatrics international, 2022-01, Vol.64 (1), p.e14953-n/a

2022

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Vitamin/mineral and micronutrient status in patients with classical phenylketonuria

Clinical nutrition (Edinburgh, Scotland), 2019-02, Vol.38 (1), p.197-203

2019

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An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

Molecular syndromology, 2022, Vol.13 (2), p.146-151

2022

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Heterotrophic growth and oil production from Micractinium sp. ME05 using molasses

Journal of applied phycology, 2018-12, Vol.30 (6), p.3483-3492

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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Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

Turkish journal of medical sciences, 2022-01, Vol.52 (4), p.1075-1084

2022

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Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study

Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7

Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders

Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review

Serum biotin interference: A troublemaker in hormone immunoassays

Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

Status dystonicus associated with CLN8 disease

Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit

Outcomes of Dyslipidemia Screening Program in School-aged Children

Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index

Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene

Enhancement of Heterotrophic Biomass Production by Micractinium sp. ME05

Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays

A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant

Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for

Vitamin/mineral and micronutrient status in patients with classical phenylketonuria

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

Heterotrophic growth and oil production from Micractinium sp. ME05 using molasses

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

Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

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