Search Results - "Soyucen, Erdogan"
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1
Differences in the gut microbiota of healthy children and those with type 1 diabetes
Published in Pediatrics international (01-06-2014)“…Background Intestinal barriers, intestinal flora, and mucosal immunity are the main factors responsible for the development of various allergic and autoimmune…”
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2
Long‐term results of liver transplantation for maple syrup urine disease: A single‐center experience in Turkey
Published in Pediatric transplantation (01-05-2023)“…Objectives Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder. Despite the advances in medical nutrition therapies, classical…”
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3
Liver transplantation from a live donor to a patient with maple syrup urine disease: Two case reports
Published in Turk Pediatri Arsivi (01-06-2018)“…Liver transplantation were reported in patients with classic maple syrup urine disease in the literature. Branched chain alpha keto acid dehydrogenase activity…”
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4
Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience
Published in Pediatrics international (01-04-2015)“…Background Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite…”
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5
Outpatient treatment of propionic acidemia-associated hyperammonemia with N -carbamoyl- l -glutamate in an infant
Published in Clinical therapeutics (01-04-2010)“…Abstract Objective: The aim of this research letter was to describe the use of N -carbamoyl- l -glutamate as first-line treatment of hyperammonemia in a…”
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6
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
Published in Journal of clinical research in pediatric endocrinology (01-09-2016)“…Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is…”
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7
Seroprevalence of autoimmune thyroiditis and celiac disease in children with insulin-dependent diabetes mellitus in the Thrace region of Turkey
Published in The Turkish journal of gastroenterology (01-09-2010)“…We aimed to estimate the seroprevalence of celiac disease, a gluten-sensitive enteropathy, and autoimmune thyroiditis in children with insulin-dependent…”
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8
Inherited metabolic disorders in Turkish patients with autism spectrum disorders
Published in Autism research (01-02-2016)“…Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains…”
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9
Intestinal Mucormycosis in a Child With Maple Syrup Urine Disease After Orthotopic Liver Transplant
Published in Experimental and clinical transplantation (01-04-2023)“…Mucormycosis can result in serious morbidity and mortality, especially in transplant recipients. In this case report, we present a 3-year-old female patient…”
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10
Mutual Relationship of Hepatitis C Virus Infection with Hepatitis B
Published in Journal of medical sciences (Faisalābād, Pakistan) (01-03-2006)Get full text
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11
Sensitization of Children to Storage Mites in Kutahya, Turkey
Published in Korean journal of parasitology (01-12-2009)“…Specific IgE against Acarus siro, Glycphagus domesticus, Tyrophagus putrescentiae, and Lepidoglyphus destructor have been investigated by ELISA in sera of 92…”
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12
Benign joint hypermobility syndrome: A cause of childhood asthma?
Published in Medical hypotheses (01-05-2010)“…Summary Benign joint hypermobility syndrome (BJHS) is a hereditable disorder of connective tissue, which is characterized by the occurrence of multiple…”
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13
Sensitization of Children to Storage Mites in Kutahya, Turkey
Published in Korean journal of parasitology (2009)“…Specific IgE against Acarus siro, Glycphagus domesticus, Tyrophagus putrescentiae, and Lepidoglyphus destructor have been investigated by ELISA in sera of 92…”
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14
Inherited metabolic disorders in T urkish patients with autism spectrum disorders
Published in Autism research (01-02-2016)“…Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains…”
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15
Hereditary tyrosinemia type 1 in T urkey: Twenty year single‐center experience
Published in Pediatrics international (01-04-2015)“…Abstract Background Hereditary tyrosinemia type 1( HT 1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated…”
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16
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients
Published in Molecular biology reports (01-07-2013)“…Tyrosinemia type-I results from lack of fumarylacetoacetate hydrolase (FAH), which is a liver enzyme and also shown to be present in lymphocytes, fibroblasts,…”
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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Published in Molecular genetics and metabolism (01-06-2024)“…Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this…”
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Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
Published in Molecular genetics and metabolism (01-12-2014)“…Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead…”
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19
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene
Published in Journal of clinical research in pediatric endocrinology (01-09-2015)“…Hypophosphatasia is an autosomal recessive and less frequently autosomal dominant hereditary congenital bone disease. It is marked by a deficiency of alkaline…”
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P2 MENİNKS YIRTIĞINA BAĞLI OTONOM HİPOGLİSEMİ
Published in Turk Pediatri Arsivi (01-03-2011)“…Cinsel istismar çocuk istismarı olgularında saptanması en zor olan ve dolayısıyla en gizli kalan tiplerden biridir Özellikle çocuk ve ergenler üzerindeki…”
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