Fatih Süheyl Ezgü
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View article: Expert opinion on clinical presentation, diagnosis and treatment of infantile onset pompe disease: a delphi study in Türkiye
Expert opinion on clinical presentation, diagnosis and treatment of infantile onset pompe disease: a delphi study in Türkiye Open
The topics related to this consensus will help physicians in Türkiye and elsewhere with high incidence rates of IOPD, especially regarding diagnosis and treatment decisions.
View article: The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension
The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension Open
Pulmonary arterial hypertension associated with congenital heart disease (APAH-CHD) is a severely progressive condition with complex pathogenesis. The aim of this study was to evaluate the contribution of genetic variants to the developmen…
View article: O-07 RAPIDLY PROGRESSIVE LATE-ONSET X-LINKED ADRENOLEUKODYSTROPHY WITH A NOVEL MUTATION
O-07 RAPIDLY PROGRESSIVE LATE-ONSET X-LINKED ADRENOLEUKODYSTROPHY WITH A NOVEL MUTATION Open
Introduction X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder resulting from a congenital defect in the ABCD1 gene, which encodes the adrenoleukodystrophy protein (ALDP). Deficiency of ALDP lea…
View article: Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution Open
Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogen…
View article: Association between CLOCK gene polymorphisms with circadian rhythm, chrononutrition, dietary intake, and metabolic parameters in adolescents
Association between CLOCK gene polymorphisms with circadian rhythm, chrononutrition, dietary intake, and metabolic parameters in adolescents Open
Introduction Circadian Locomotor Output Cycles Kaput (CLOCK) is one of the transcription factors from the positive end of the molecular clock and regulates biological rhythm in mammals. Studies have shown that genetic variations in the CLO…
View article: Correction: Intestinal microbiota composition of children with glycogen storage Type I patients
Correction: Intestinal microbiota composition of children with glycogen storage Type I patients Open
View article: Advances in Immune Tolerance Induction in Enzyme Replacement Therapy
Advances in Immune Tolerance Induction in Enzyme Replacement Therapy Open
View article: Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know? Open
Mucopolysaccharidosis type VII (MPS VII) is an ultra-rare, life-threatening, progressive disease caused by genetic mutations that affect lysosomal storage/function. MPS VII has an estimated prevalence of <1:1,000,000 and accounts for <3% o…
View article: Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia Open
Background: Hyperphenylalaninemia (HPA) is defined as blood phenylalanine (Phe) levels exceeding the normal values (>120 μmol/L or >2 mg/dL) and is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). T…
View article: Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?
Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control? Open
ÖzGiriş: Glikojen depo hastalığı tip I (GSD I
View article: Real Life Event-Based Outcomes of Patients With Gaucher Disease Receiving ERT
Real Life Event-Based Outcomes of Patients With Gaucher Disease Receiving ERT Open
Purpose Gaucher Disease (GD) is a lysosomal storage disease. Mutations in GBA1 gene cause glucocerebrosidase enzyme deficiency that leads accumulation of its substrates. Clinical presentations of GD are cytopenia, hepatosplenomegaly, bone …
View article: Intestinal microbiota composition of children with glycogen storage type I patients
Intestinal microbiota composition of children with glycogen storage type I patients Open
Aim Dietary therapy of glycogen storage disease I (GSD I) is based on frequent feeding, with a high intake of complex carbohydrates (supplied by uncooked cornstarch), restriction of sugars, and a lower amount of lipids. There is limited in…
View article: Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective Open
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…
View article: Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration Open
Substantial challenges in study design and methodology exist during clinical trial development to examine treatment response in patients with a rare disease, especially those with predominant central nervous system involvement and heteroge…
View article: Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective
Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective Open
This expert-opinion-based document was prepared by a group of specialists in pediatric inherited metabolic diseases and infectious diseases including administrative board members of Turkish Society for Pediatric Nutrition and Metabolism to…
View article: P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration
P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration Open
View article: Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease
Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease Open
Background and Objective: Pompe disease (PD) is an inherited lysosomal storage disease that progresses with glycogen accumulation in many tissues, due to the deficiency of the acid-alpha glucosidase enzyme. Recombinant alglucosidase alfa (…
View article: Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial
Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial Open
Objective: The dysregulation of metabolism is a hallmark of cancer. Enzymes of tricarboxylic acid (TCA) cycle have a key role in pathogenesis of carcinogenesis as oncometabolits. The variants in fumarate hydratase (FH) gene have been linke…
View article: Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of nitisinone therapeutic range
Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of nitisinone therapeutic range Open
Introduction: In tyrosinemia type I (HT1) accumulation of succinylacetone causes severe hepatic and renal dysfunction and hepatocellular carcinoma, and the only drug used in the treatment is nitisinone (NTBC). While succinylacetone measure…
View article: Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)
Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B) Open
View article: A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B Open
BackgroundSanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacem…
View article: Assessment of auditory functions in patients with hepatic glycogen storage diseases
Assessment of auditory functions in patients with hepatic glycogen storage diseases Open
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss an…
View article: MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ
MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ Open
AMAÇ: Metabolik sendrom, obezite, yüksek düzeyde düşük yoğunluklu kolesterol düzeyi (LDL), trigliserit düzeyi (TG) ve insuline duyarlılık ile karakterize olan günümüzde sıklığı giderek artan bir bozukluktur. Metabolik sendromun etiyopatoge…
View article: Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study
Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study Open
SOBI003 was well tolerated when administered as weekly intravenous infusions at doses of up to 20 mg/kg for up to 104 weeks. ADA development was common and likely affected both PK and PD parameters. SOBI003 crossed the BBB and showed pharm…
View article: Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB Open
ClinicalTrials.gov identifiers NCT02493998, NCT03227042, and NCT02754076.
View article: Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective Open
View article: Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA Open
View article: An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation
An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation Open
Ribonucleotide-diphosphate reductase subunit M2B(RRM2B)-related mitochondrial disease is one of the ultra-rare mitochondrial depletion syndromes. A-2-months of age girl who had severe hypotonia with absent reflexes, failure to thrive, and …
View article: Co-Occurring Atypical Galactosemia and Wilson Disease
Co-Occurring Atypical Galactosemia and Wilson Disease Open
Introduction: Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or severe deficiency of galactose-1-phosphate uridyltransferase (GALT), and in rare…
View article: A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature Open
Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodevelopmental disorder that is characterized by decreased brainstem and cerebellum volume. Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease associated with autosom…