Mahmut ÇOKER
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Research areas: Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Internal Diseases, Endocrinology and Metabolic Diseases, Medical Genetics, Medical Ecology and Hydroclimatology, Pediatric Endocrinology and Metabolism, Other
Publications
- Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia (2025)
- Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia (2025)
- Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data (2025)
- Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study (2025)
- Evaluating biomarkers for diagnosis and treatment monitoring in Gaucher Disease (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses (2025)
- Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases (2025)
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid–Liquid Extraction Combined with LC–MS/MS (2025)
- Next generation sequencing in children with isolated congenital cataract (2025)
- Insights into skeletal involvement in adult Gaucher disease: a single-center experience (2025)
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes (2025)
- Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX (2025)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients (2025)
- Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations (2025)
- The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency (2025)
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels (2024)
- Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease (2024)
- Splenomegaly and progressive neurologic involvement: Think about Niemann–Pick type C disease (2024)
- Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia (2024)
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye (2024)
- DİSMORFİK BULGULAR (METABOLİK) (2024)
- Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia (2024)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl (2024)
- Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency (2024)
- 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 (2024)
- REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B (2024)
- Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity (2023)
- Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb (2023)
- Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome (2023)
- Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG (2023)
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience (2023)
- Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis (2023)
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels (2023)
- Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective (2023)
- HIBCH MUTATIONS AS A PART FROM DIFFERENTIAL DIAGNOSIS OF LEIGH-LIKE SYNDROME (2022)
- HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (2022)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)
- Clinical spectrum of early onset “Mediterranean” (homozygous p. P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy (2022)
- Long-term follow-up of alkaptonuria patients: Single center experience (2022)
- Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency (2022)
- THE ROLE OF LYSO GB1 LEVELS IN FOLLOW-UP PATIENTS WITH GAUCHER DİSEASE (2022)
- INFLAMMATORY AND OXIDATIVE STRESS MARKERS IN SERUM OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS (2022)
- Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434]. (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Recommendations on phenylketonuria in Turkey (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Hypercalciuria and Hyperphosphaturia in Insulin Dependent Diabetes Mellitus (2022)
- Reflections from Ege University Medical School’s clinical internship mentoring program (2011–2018): EGE ÜNİVERSİTESİ TIP FAKÜLTESİ KLİNİK EVRE STAJ DANIŞMANLIK SİSTEMİ DENEYİMİ (2011–2018) (2022)
- Severe perinatal hypophosphatasia case with a novel mutation (2022)
- Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux (2022)
- Two siblings with galactose mutarotase deficiency: Clinical differences (2021)
- Two siblings with galactose mutarotase deficiency: Clinical differences (2021)
- Methylmalonyl-CoA Epimerase Deficiency Case: Mimicking Ketolysis Defect (2021)
- Eight CPT II deficient patients: single center experience from Turkey (2021)
- Reflections from Ege University Medical School’s clinical internship mentoring program (2011–2018) (2021)
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience (2021)
- A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage (2021)
- Tetrahydrobiopterin deficiencies: Lesson from clinical experience. (2021)
- Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII (2021)
- SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
- The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population (2020)
- Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy (2020)
- The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population (2020)
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies. (2020)
- SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
- Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population (2020)
- Ege Üniversitesi Tıp Fakültesi Öğrenci ve Öğretim Üyesi Değerlendirme Formları ile Yapılan Ölçümlere İlişkin Geçerlilik - Güvenilirlik (2020)
- The decision making levels of urine tetrasaccharide for diagnosis of Pompe disease (2019)
- A fast and convenient UPLC - MSMS method for routine analysis of GALT activity from dried blood spot (2019)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): our clinical experience and a novel mutation. (2019)
- A fast and convenient UPLC - MSMS method for routine analysis of GALT activity from dried blood spot. (2019)
- A specific, sensitive, simplified and fast LC– MS/MS method for plasma Lyso-GB3 levels (2019)
- Ornithine Aminotransferase Deficiency: Report of Three Cases (2019)
- The decision making levels of urine tetrasaccharide for diagnosisof Pompe disease (2019)
- Patients with Hypertriglyceridemia Due to Lipoprotein Lipase and APOC2 Deficiency (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- Hyperammonemia Due to Carnitine-Acylcarnitine Translocase Deficiency (2019)
- Coexistence of Gaucher Disease and severe congenital neutropenia (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)
- LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors (2019)
- Clinical Presentation and Follow Up of Patients with Infantile Krabbe: Single Center Experience (2019)
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Our Clinical Experience and a Novel Mutation (2019)
- Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis (2019)
- Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases (2019)
- Two siblings with Gaucher type 3c: different clinical presentations (2019)
- A case of fucosidosis treated with unrelated donor bone marrow transplantation (2018)
- Clinical and biochemical characteristics of fourteen patients with Fabry disease in western Turkey (2018)
- İki nadir metabolik hastalık: CPT1a ve MPS IIIB birlikteliği (2018)
- Pregnancies In Our Patients With Gaucher Disease; What Happened (2018)
- False positive diagnosis of lysosomal disease with dried blood spot (DBS) sample leukocyte number as a challenging factor (2018)
- TÜRK TOPLUMUNDA FABRY HASTALIĞI; ALFA GALAKTOSİDAZ GEN MUTASYON PROFİLİ (2018)
- Lysosomal storage disease in adult patients: Ege University experience (2018)
- Clinical presentation and follow-uppatients with mucopolysaccharidosis IVa: Ege Universty experience (2018)
- REFLECTIONS FROM EGE UNIVERSITY MEDICAL SCHOOL’S CLINICAL INTERNSHIP MENTORING PROGRAM (2011-2018) (2018)
- Kolesterol ester depo hastalığının taranması, olası ön göstergelerinin araştırılması ve lizozomal asit lipazın referans aralığının belirlenmesi (2018)
- Dünden Bugüne EÜTF Çocuk Beslenme ve Metabolizma Hastalıkları BD Lizozomal Depo Hastalıkları Tanı Laboratuvarı Verileri (2018)
- PgmNr 2849: Molecular spectrum of PAH gene mutations in the Aegean region of Turkey: Identification of four novel mutations. (2018)
- Acut metabolic decompensation of a maple syrup urine disease patient treated with hemodiafiltration (2018)