Fatma Derya Bulut
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View article: Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study
Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study Open
Background/Objectives: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder characterized by progressive neurologic and extra-neurologic findings. We aimed to explore the age at symptom onset and at diagnosis as well a…
View article: Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease
Clinical and molecular findings in 44 Turkish patients with infantile-onset Pompe disease Open
Purpose: This study aims to investigate genotype–phenotype correlations in a cohort of 44 patients diagnosed with Infantile-onset Pompe disease (IOPD) Materials and Methods: This retrospective study analyzed the clinical and genetic charac…
View article: Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?
Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep? Open
Background: Phenylketonuria (PKU) is an inherited metabolic disorder that requires early diagnosis and strict phenylalanine (Phe)-restricted diet to prevent neurocognitive impairment. Various infant feeding models have been used to achieve…
View article: Clinical and laboratory predictors of severe pediatric Crimean-Congo hemorrhagic fever: A retrospective study
Clinical and laboratory predictors of severe pediatric Crimean-Congo hemorrhagic fever: A retrospective study Open
Objective: To identify clinical and laboratory parameters associated with severe disease requiring intensive care among pediatric Crimean-Congo hemorrhagic fever (CCHF) patients. Methods: Twenty-three children with confirmed CCHF were divi…
View article: Clinical features and rare complications in 132 patients with hepatic glycogenosis
Clinical features and rare complications in 132 patients with hepatic glycogenosis Open
Background Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes—types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) a…
View article: A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics Open
Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Diagnosis and prompt initiation of appropriate treatment shortly after …
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: Audiovestibular Findings in Gaucher Disease Types I and <scp>III</scp>: Evidence of Vestibular Involvement in <scp>GD1</scp>
Audiovestibular Findings in Gaucher Disease Types I and <span>III</span>: Evidence of Vestibular Involvement in <span>GD1</span> Open
Gaucher disease (GD), the most prevalent lysosomal storage disorder, is characterized by varying levels of systemic and neurological involvement. This study aims to investigate audiovestibular system involvement in patients with Gaucher di…
View article: Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients Open
Background and Aims Since described in 2015, NBAS‐associated disease has emerged as an important cause of acute liver failure (ALF) in children. We analysed the variable expression, genotype–phenotype association, outcome and prognostic fa…
View article: Nutritional management in MNGIE disease: A case report
Nutritional management in MNGIE disease: A case report Open
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder characterized by thymidine phosphorylase deficiency. The progressive course of MNGIE increases the importance of early diagnosis…
View article: Effect of Dietary Treatment on Growth and plasma IGF-1 and IGFBP-3 Levels of Children with Familial Hypercholesterolemia
Effect of Dietary Treatment on Growth and plasma IGF-1 and IGFBP-3 Levels of Children with Familial Hypercholesterolemia Open
Background/Objective: This study aims to determine the effects of dietary treatment on growth and the biochemical markers of growth in children with primary familial hypercholesterolemia. Subjects/Methods: The study was conducted with 30 c…
View article: OP-101 Rickets; both a presenting symptom and a frequent complication of tyrosinemia type-1
OP-101 Rickets; both a presenting symptom and a frequent complication of tyrosinemia type-1 Open
Aim Tyrosinemia type-1 (TYR-1) is a treatable inborn error of tyrosine metabolism characterized by the deficiency of fumarylacetoacetate hydrolase due to biallelic pathogenic FAH gene variants, which causes fumarylacetoacetate and succinyl…
View article: Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey
Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey Open
Background: Cardiomyopathy (CM) is an important factor affecting inherited metabolic disorders (IMDs). Therefore, documentation of real-world data can increase awareness, and early diagnosis and treatment may improve the outcome. Objective…
View article: Ashwagandha is protective of impaired motor-coordination in experimental CI/R damage in rats
Ashwagandha is protective of impaired motor-coordination in experimental CI/R damage in rats Open
Introduction and Objective: Cerebral ischemia (CI) is a condition in which metabolic stress increases when blood flow to a part of the brain is interrupted, resulting in oxygen and glucose deprivation. Later, during the treatment process, …
View article: Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders
Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders Open
Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date. Mater…
View article: Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome Open
Background 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…
View article: HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH REDUCED TOXICITY CONDITIONING REGIMEN IN MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME (MNGIE)
HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH REDUCED TOXICITY CONDITIONING REGIMEN IN MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME (MNGIE) Open
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…
View article: A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT
A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT Open
Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to…
View article: Clinical spectrum of early onset “Mediterranean” (homozygous p.<scp>P131L</scp> mutation) mitochondrial neurogastrointestinal encephalomyopathy
Clinical spectrum of early onset “Mediterranean” (homozygous p.<span>P131L</span> mutation) mitochondrial neurogastrointestinal encephalomyopathy Open
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, …
View article: Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit
Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit Open
Purpose: Hepatomegaly, splenomegaly and hepatosplenomegaly in children can be due to infections, genetic liver diseases, hematological diseases or malignancies, autoimmune disorders, and also inborn errors of metabolism (IEM). Some IEM’s h…
View article: GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations
GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations Open
Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses.
Materials and Methods: The file records of 14 patients diagnosed with…
View article: Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign Open
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased idu…
View article: Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia Open
We have detected two novel mutations, including one splice-site mutation in the MUT gene and one frame shift mutation in the MMAA gene in 37 Turkish patients. We confirm the genotype-phenotype correlation in the study population according …
View article: A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency Open
Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA).…
View article: Mutations Within the Transcription Factor <i>PROP1</i> in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Mutations Within the Transcription Factor <i>PROP1</i> in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency Open
Phenotype of patients regarding hormonal deficiencies, pituitary morphology, presence of extra-pituitary findings, family history of CPHD and parental consanguinity are important for deciding which pituitary transcription factor deficiency…