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Mitochondrial phosphate‐carrier deficiency mimicking infantile‐onset Pompe disease

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63643-n/a

2024

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A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Molecular syndromology, 2024-03, Vol.15 (2), p.156-160

2024

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Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Cukurova Medical Journal, 2021-12, Vol.46 (4), p.1419-1425

2021

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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63645-n/a

2024

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A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

The Turkish journal of pediatrics, 2020-09, Vol.62 (5), p.831-835

2020

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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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Does glutaric aciduria type 1 affect hearing function?

Metabolic brain disease, 2022-08, Vol.37 (6), p.2121-2132

2022

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Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

Turkish journal of pediatrics, 2021, Vol.63 (5), p.767-779

2021

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Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Turkish journal of pediatrics, 2020-05, Vol.62 (3), p.474-478

2020

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Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Molecular syndromology, 2024-09, p.1-14

2024

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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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GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations

Cukurova Medical Journal, 2021-09, Vol.46 (3), p.1201-1207

2021

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The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma

Journal of Pediatric Endocrinology and Metabolism, 2014-01, Vol.27 (1-2), p.159

2014

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Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation

Journal of Pediatric Endocrinology and Metabolism, 2023-11, Vol.36 (11), p.1092-1099

2023

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Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease

Klinische Pädiatrie, 2024-09

2024

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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency

European journal of pediatrics, 2024-03, Vol.183 (3), p.1341-1351

2024

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

Journal of Pediatric Endocrinology and Metabolism, 2019-10, Vol.32 (10), p.1049-1053

2019

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Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country

Journal of developmental and behavioral pediatrics, 2020-04, Vol.41 (3), p.195-202

2020

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An Association of Leishmaniasis and Dyserythropoiesis in Children

Indian journal of hematology & blood transfusion, 2014-03, Vol.30 (1), p.19-21

2014

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A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

Turkish journal of pediatrics, 2017, Vol.59 (6), p.693-695

2017

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Cognitive and behavioral impairment in mild hyperphenylalaninemia

Turkish journal of pediatrics, 2018, Vol.60 (6), p.617-624

2018

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-07, Vol.63 (4), p.691-696

2021

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Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-08, Vol.63 (4), p.691-696

2021

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A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT

Genetika (Beograd), 2023, Vol.55 (1), p.415-426

2023

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Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder

Journal of Pediatric Endocrinology and Metabolism, 2016-01, Vol.29 (1), p.85

2016

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Mitochondrial phosphate‐carrier deficiency mimicking infantile‐onset Pompe disease

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

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

Does glutaric aciduria type 1 affect hearing function?

Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations

The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma

Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation

Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency

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

Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country

An Association of Leishmaniasis and Dyserythropoiesis in Children

A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

Cognitive and behavioral impairment in mild hyperphenylalaninemia

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT

Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder

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