Mahmut Çöker

University of Florida — United States

Medicine · Health Sciences

25h-index2.3kcitations195works0.92yr avg
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Research Topics

Lysosomal Storage Disorders Research(45), Metabolism and Genetic Disorders(45), Diet and metabolism studies(17), Glycogen Storage Diseases and Myoclonus(17), Amino Acid Enzymes and Metabolism(16)

Publications194 total

Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid–Liquid Extraction Combined with LC–MS/MS
ACS Omega·2025Open Access
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia
Journal of clinical lipidology·2025
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations
Journal of Pediatric Endocrinology and Metabolism·2025Open Access
Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center
Turkish Journal of Pediatric Disease·2025Open Access
A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses
Ege Tıp Dergisi·2025Open Access
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia
Journal of Clinical Research in Pediatric Endocrinology·2025Open Access
Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients
Trends in Pediatrics·2025Open Access
Next generation sequencing in children with isolated congenital cataract
European Journal of Ophthalmology·2025
Respiratory Function Correlates With Swallowing Related Quality of Life Measures in Patients With Friedreich's Ataxia
American Journal of Respiratory and Critical Care Medicine·2025
Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease
Ege Tıp Dergisi·2024Open Access
Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia
Journal of clinical lipidology·2024
REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B
TURKISH MEDICAL STUDENT JOURNAL·2024Open Access
Swallowing Safety and Efficiency in Infants With Spinal Muscular Atrophy at the Time of Diagnosis
2024
Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type <scp>IIIa</scp>: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance
Journal of Inherited Metabolic Disease·2024· 4 citedOpen Access
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency
Nutrition Metabolism and Cardiovascular Diseases·2024· 5 cited
Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels
ACS Omega·2024· 5 citedOpen Access
Splenomegaly and progressive neurologic involvement: Think about Niemann–Pick type C disease
Pediatrics International·2024· 3 citedOpen Access
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
Journal of Pediatric Endocrinology and Metabolism·2023· 2 cited
Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
Cytokine·2023· 1 cited
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Frequent Co-authors

Sema Kalkan Uçar(20), Şükran Darcan(17), Damla Gökşen(13), Ebru Canda(6), Ivo Barić(4), Timur Köse(4), Ferda Özkınay(4), Karl Otfried Schwab(3), Vassili Valayannopoulos(3), Corinne Gemperle-Britschgi(3), Jörn Oliver Sass(3), Zerrin Orbak(3), Hüseyin Önay(3), Sara Habif(3), Ertürk Levent(3), Damla Gökşen Şimşek(3), Eser Yıldırım Sözmen(3), Mehmet Yalaz(3), Nilgün Kültürsay(3), Fatih Süheyl Ezgü(2)