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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic brain disease, 2022-04, Vol.37 (4), p.1283-1287

2022

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A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy

Journal of Pediatric Endocrinology and Metabolism, 2011-03, Vol.24 (1-2), p.105-108

2011

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Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report

Journal of Pediatric Endocrinology and Metabolism, 2021-10, Vol.34 (10), p.1335-1339

2021

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Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis

Journal of Pediatric Endocrinology and Metabolism, 2022-05, Vol.35 (5), p.681-685

2022

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Evaluation of bone health in patients with mucopolysaccharidosis

Journal of bone and mineral metabolism, 2022-05, Vol.40 (3), p.498-507

2022

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A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

Metabolic brain disease, 2019-04, Vol.34 (2), p.495-503

2019

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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Journal of clinical research in pediatric endocrinology, 2012-09, Vol.4 (3), p.121-126

2012

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Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency

Metabolic brain disease, 2018-06, Vol.33 (3), p.977-979

2018

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Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency

Journal of Pediatric Endocrinology and Metabolism, 2016-04, Vol.29 (4), p.481

2016

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Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

Journal of Pediatric Endocrinology and Metabolism, 2017-07, Vol.30 (7), p.713

2017

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Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

Metabolic brain disease, 2018-08, Vol.33 (4), p.1223-1227

2018

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Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

Metabolic brain disease, 2016-10, Vol.31 (5), p.1181-1183

2016

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Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation

Journal of Pediatric Endocrinology and Metabolism, 2016-07, Vol.29 (7), p.863

2016

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An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening

Journal of Pediatric Endocrinology and Metabolism, 2015-05, Vol.28 (5-6), p.669

2015

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An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

Journal of Pediatric Endocrinology and Metabolism, 2017-02, Vol.30 (2), p.237

2017

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Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

Journal of Pediatric Endocrinology and Metabolism, 2018-03, Vol.31 (3), p.339-343

2018

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Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Journal of Pediatric Endocrinology and Metabolism, 2015-09, Vol.28 (9-10), p.1179

2015

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Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

JIMD Reports, Volume 14, 2014-01, Vol.14, p.1-9

2014

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Serum IGF-1 and IGFBP-3 levels in healthy children between 0 and 6 years of age

Journal of clinical research in pediatric endocrinology, 2011-06, Vol.3 (2), p.84-88

2011

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Thyroid Peroxidase Gene Mutations Causing Congenital Hypothyroidism in Three Turkish Families

Journal of Pediatric Endocrinology and Metabolism, 2009-11, Vol.22 (11), p.1033-1040

2009

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Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.4136-4141

2004

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Thyroid hormone levels and their relationship to survival in children with bacterial sepsis and septic shock

Journal of Pediatric Endocrinology and Metabolism, 2004-10, Vol.17 (10), p.1435

2004

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Serum IL-1, IL-2, TNFα and INFγ Levels of Patients with Type 1 Diabetes Mellitus and their Siblings

Journal of Pediatric Endocrinology and Metabolism, 2003, Vol.16 (2)

2003

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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy

Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report

Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis

Evaluation of bone health in patients with mucopolysaccharidosis

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation

An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening

An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Serum IGF-1 and IGFBP-3 levels in healthy children between 0 and 6 years of age

Thyroid Peroxidase Gene Mutations Causing Congenital Hypothyroidism in Three Turkish Families

Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect

Thyroid hormone levels and their relationship to survival in children with bacterial sepsis and septic shock

Serum IL-1, IL-2, TNFα and INFγ Levels of Patients with Type 1 Diabetes Mellitus and their Siblings

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