Explanipedia

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations Open

Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia ALAY ESER, Merve Yoldaş Çelik , et al. · 2025

Objectives Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leadi…

Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center Open

Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu , et al. · 2025

Objective: Cardiac involvement is a common but often underrecognized feature of inherited metabolic disorders (IMDs), particularly in pediatric populations. Early detection is crucial, since many IMDs have disease-specific treatments that …

A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses Open

Fehime Erdem, Havva Yazıcı, Merve Yoldaş Çelik, Ayşe Yüksel Yanbolu, Ebru Canda , et al. · 2025

Aim: Mucopolysaccharidoses (MPS) are a heterogeneous group of diseases characterised by systemic manifestations due to impaired glucosaminoglycans (GAG) degradation within lysosomes. Mucopolysaccharidosis type II (MPS II, Hunter) is a lyso…

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia Open

Havva Yazıcı, Esra Er, Fehime Erdem, Ayşe Yüksel Yanbolu, Sakina Mammadova , et al. · 2025

This is the first large pediatric HeFH cohort study from Turkey providing details on both genetic background and treatment outcomes. Despite genetic confirmation, significant gaps remain in early diagnosis, treatment acceptance, and long-t…

Effect of large neutral amino acids treatment on blood phenylalanine, tyrosine, and tryptophan levels in adolescent and young adult PKU patients Open

Fehime Erdem, Ebru Canda, Havva Yazıcı, Yasemin Atik Altınok, Merve Yoldaş Çelik , et al. · 2025

Objective: We aimed to evaluate the change in phenylalanine (Phe), Tyrosine (Tyr), and Tryptophan (Trp) blood levels in classical PKU patients treated with large neutral amino acids (LNAA) supplementation. Methods: Twenty-nine PKU patients…

Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease Open

Havva Yazıcı, Fehime Erdem, Merve Yoldaş Çelik, Erhan Canbay, Ebru Canda , et al. · 2024

Aim/Objective: The primary goal of this study is to explore the impact of consistent treatment on key disease marker, Lyso-Gb1. Additionally, this research aims to evaluate the influence of splenectomy on Lyso-gb1 concentrations within the…

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

Hasan Selçuk Özkan, Ece Derin Aydın, Sakina Mammadova, Mahmut Çöker · 2024

Recurrent infections in children are alarming symptoms that require further investigation, particularly for various immunodeficiency syndromes.However, concomitant physical examination and laboratory findings, along with detailed investiga…

Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type <span>IIIa</span>: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance Open

Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, Ebru Canda, Havva Yazıcı , et al. · 2024

Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a …

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

Nur Arslan, Mahmut Çöker, Gülden Gökçay, Ertuğrul Kıykım, Neslihan Önenli Mungan , et al. · 2023

This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients…

HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH REDUCED TOXICITY CONDITIONING REGIMEN IN MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME (MNGIE) Open

Gülcihan Özek, Serap Aksoylar, Sema Kalkan Uçar, Ebru Canda, Mediha Akcan , et al. · 2023

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunctio…

Recommendations on phenylketonuria in Turkey Open

Turgay Coşkun, Mahmut Çöker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri · 2022

Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases. The present paper ai…

Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V Open

Murat Karataş, Murat Karat, Havva Yazıc, Ayşe Bozacı, Ebru Canda , et al. · 2022

Presentación de casos clínicos RESUMENLa enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa.Existen cuatro tipos según el inicio de los síntomas clínicos:

Un caso de hipofosfatasia perinatal grave con una mutación novedosa Open

Kalkan Ucar, Havva Yazıcı, Ebru Canda, Sema Kalkan Uçar, Mahmut Çöker · 2022

Presentación de casos clínicos RESUMENLa hipofosfatasia es un trastorno hereditario raro causado por mutaciones en el gen ALPL.Causa defectos en la mineralización ósea y dental, función respiratoria anormal, convulsiones, hipotonía, dolor …

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

Murat Karataş, Havva Yazıcı, Ayşe Ergül Bozacı, Ebru Canda, Ertürk Levent , et al. · 2022

Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile , Ebru Candab, Ertürk Leventc , The infa…

Severe perinatal hypophosphatasia case with a novel mutation Open

Havva Yazıcı, Ebru Canda, Sema Kalkan Uçar, Mahmut Çöker · 2022

Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene. Mineralization defect in bones and teeth, abnormal respiratory function, seizures, hypotonia, bone pain, and nephrocalcinosis can be observed. Clinic…

Two siblings with galactose mutarotase deficiency: Clinical differences Open

Havva Yazıcı, Ebru Canda, Yasemin Atik Altınok, Sema Kalkan Uçar, Mahmut Çöker · 2021

Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presen…

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

Simon Jones, Mahmut Çöker, Antonio González-Meneses López, Jennifer Sniadecki, J. Mayhew , et al. · 2021

Tetrahydrobiopterin deficiencies: Lesson from clinical experience Open

Ayşe Ergül Bozacı, Esra Er, Havva Yazıcı, Ebru Canda, Sema Kalkan Uçar , et al. · 2021

Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. Methods W…

A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage Open

Havva Yazıcı, Ebru Canda, Esra Er, Barış Malbora, Burcu Öztürk Hişmi , et al. · 2021

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the “α-L-iduronidase”. The clinical manifestations concern multisystemic involvement. There are two disease modifying therap…

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey Open

Melis Köse, Ebru Canda, Mehtap Kağnıcı, Ayça Aykut, Ogün Adebalı , et al. · 2020

Reliability and Validity of The Measurements Done by Using Students’ and Teachers’ Evaluation Forms in Ege University School of Medicine Open

Kevser Vatansever, Şöhret Aydemir, Hilal BATI, Cenk Can, Mahmut Çöker , et al. · 2020

Introduction Program evaluation in medical education provides data that guide the program development process. It is expected that evaluation instruments are valid, reliable and low-cost, and useful for obtaining opinions of different grou…

Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Open

Ebru Canda, Sema Kalkan Uçar, Mahmut Çöker · 2020

Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, devel…

Lysosomal acid lipase activity in children with dyslipidemia and hepatic dysfunction Open

Beyhan Özkaya, Ebru Canda, Melis Köse, Mehtap Kağnıcı, Eser Yıldırım Sözmen , et al. · 2020

<i>Biallelic ZNF335</i> mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy Open

Ahmet Okay Çağlayan, Kourosh Yaghouti, Tanyel Koçkaya, Demet Kemer, Tufan Çankaya , et al. · 2020

To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of noncon…

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis Open

Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar , et al. · 2019

Aim:Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis [transforming growth factor β- (TGF-β)], …

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis Open

Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar , et al. · 2018

Aim: Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS).In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis (transforming growth factor β-TGF-β, inte…

Single center experience of biotinidase deficiency: 259 patients and six novel mutations Open

Ebru Canda, Havva Yazıcı, Esra Er, Melis Köse, Güneş Başol , et al. · 2018

Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%–30% enzyme activity) and profound…

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone Open

Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Kılınç, Sema Kalkan Uçar , et al. · 2018

Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and…

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis Open

Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok , et al. · 2018

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tiss…

Tyrosinemia Type 1 and Reversible Neurogenic Crisis After One Month Interruption of Nitisinone Open

Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Kılınç, Sema Kalkan Uçar , et al. · 2018

Aim: This study aims to evaluate the sleep quality and the quality of life (QoL) of adolescents with chronic gastritis, and determine the related factors. Materials and Methods:This study included patients who were diagnosed with chronic g…

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