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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020

2015

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Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity

Analytical biochemistry, 2023-10, Vol.678, p.115284-115284, Article 115284

2023

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REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B

Turkish medical student journal, 2024-06, Vol.11 (2), p.50-54

2024

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Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency

Turkish journal of pediatrics, 2022-09, Vol.64 (5), p.946-950

2022

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LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors

Talanta (Oxford), 2020-03, Vol.209, p.120558-120558, Article 120558

2020

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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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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Human genetics, 2014-01, Vol.133 (1), p.29-39

2014

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Recommendations on phenylketonuria in Turkey

The Turkish journal of pediatrics, 2022, Vol.64 (3), p.413-434

2022

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Two siblings with galactose mutarotase deficiency: Clinical differences

JIMD reports, 2022-01, Vol.63 (1), p.25-28

2022

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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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The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population

Journal of Pediatric Endocrinology and Metabolism, 2020-03, Vol.33 (3), p.391-395

2020

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Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100774-100774, Article 100774

2021

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Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

Archivos argentinos de pediatría, 2022-02, Vol.120 (1), p.e25

2022

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Reflections from Ege University Medical School’s clinical internship mentoring program (2011–2018)

Turkish Journal of Biochemistry, 2022-06, Vol.47 (2), p.173-178

2022

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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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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Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

Brain & development (Tokyo. 1979), 2010-02, Vol.32 (2), p.156-161

2010

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Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

JIMD Reports, Volume 35, 2017-01, Vol.35, p.39-45

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, Vol.47 (5), p.1001-1017

2024

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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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Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Journal of bone and mineral research, 2003-12, Vol.18 (12), p.2095-2104

2003

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Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye

Turk oftalmoloji gazetesi, 2024-06, Vol.54 (3), p.127-132

2024

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Journal of clinical research in pediatric endocrinology, 2024-09, Vol.16 (3), p.361-366

2024

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Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

The journal of pediatric research, 2016-06, Vol.3 (2), p.82-85

2016

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Possible diagnostic markers for Mucopolysaccharidoses; Cathepsin-D, Galectin-3 and Chitotriosidase

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2017-08

2017

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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity

REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency

LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors

Biotinidase Deficiency: Prevalence, Impact And Management Strategies

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Recommendations on phenylketonuria in Turkey

Two siblings with galactose mutarotase deficiency: Clinical differences

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

The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

Reflections from Ege University Medical School’s clinical internship mentoring program (2011–2018)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

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

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

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye

Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

Possible diagnostic markers for Mucopolysaccharidoses; Cathepsin-D, Galectin-3 and Chitotriosidase

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