المؤلفون: Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı

المصدر: Balkan Medical Journal, Vol 39, Iss 5, Pp 345-350 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422; https://doaj.org/toc/2146-3131; https://doaj.org/toc/2146-3123

URL الوصول: https://doaj.org/article/5e0ef359b03e483e9e005be2d4c153d5

المؤلفون: Abdurrahman Akgun, Gulden Gokcay, Neslihan Onenli Mungan, Hatice Serap Sivri, Hasan Tezer, Cigdem Aktuglu Zeybek, Fatih Ezgu

المصدر: Frontiers in Public Health, Vol 11 (2023)

مصطلحات موضوعية: lysosomal storage diseases, COVID-19 pandemic, specialized care, expert opinion, immune-inflammatory mechanisms, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1092895/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/1910dd11ee834a16b3614b54a8b92b29

المؤلفون: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/63fd4568c46247219b22665cafdc58b9

المؤلفون: Elif Ballikaya, Yılmaz Yildiz, Nagihan Koç, Ayşegül Tokatli, Meryem Uzamis Tekcicek, Hatice Serap Sivri

المصدر: BMC Oral Health, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Maple syrup disease, Dental caries, Gingival inflammation, Panoramic radiography, Dental anomaly, Diet, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6831

URL الوصول: https://doaj.org/article/66527a8d75bc4545b24efa6c1b9732b2

المؤلفون: Ania C. Muntau (549316), Alberto Burlina (3543140), François Eyskens (301890), Peter Freisinger (3822628), Vincenzo Leuzzi (500280), Hatice Serap Sivri (11227738), Gwendolyn Gramer (3822619), Renata Pazdírková (3822631), Maureen Cleary (1460962), Amelia S. Lotz-Havla (11227741), Paul Lane (4921480), Ignacio Alvarez (11227744), Frank Rutsch (11533)

مصطلحات موضوعية: Medicine, Physiology, Ecology, Immunology, Developmental Biology, Infectious Diseases, Computational Biology, Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Long-term_efficacy_and_safety_of_sapropterin_in_patients_who_initiated_sapropterin_at_4_years_of_age_with_phenylketonuria_results_of_the_3-year_extension_of_the_SPARK_open-label_multicentre_randomised_phase_IIIb_trial/15102643

الاتاحة: https://doi.org/10.6084/m9.figshare.15102643.v1

المؤلفون: Ania C. Muntau (549316), Alberto Burlina (3543140), François Eyskens (301890), Peter Freisinger (3822628), Vincenzo Leuzzi (500280), Hatice Serap Sivri (11227738), Gwendolyn Gramer (3822619), Renata Pazdírková (3822631), Maureen Cleary (1460962), Amelia S. Lotz-Havla (11227741), Paul Lane (4921480), Ignacio Alvarez (11227744), Frank Rutsch (11533)

مصطلحات موضوعية: Medicine, Physiology, Ecology, Immunology, Developmental Biology, Infectious Diseases, Computational Biology, Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Long-term_efficacy_and_safety_of_sapropterin_in_patients_who_initiated_sapropterin_at_4_years_of_age_with_phenylketonuria_results_of_the_3-year_extension_of_the_SPARK_open-label_multicentre_randomised_phase_IIIb_trial/15102646

الاتاحة: https://doi.org/10.6084/m9.figshare.15102646.v1

المؤلفون: İzzet Erdal, Yılmaz Yıldız, Gizem Önal, Oktay Halit Aktepe, Selin Ardalı Düzgün, Arzu Sağlam, Serap Dökmeci Emre, Hatice Serap Sivri

المصدر: Endocrine, Metabolic & Immune Disorders - Drug Targets. 23:230-234

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af96623ffba47874467444199ab348d5
https://doi.org/10.2174/1871530322666220420134935

المؤلفون: Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı

المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:539-545

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Dose, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Cost of Illness, Surveys and Questionnaires, Pandemic, Epidemiology, medicine, Humans, Enzyme Replacement Therapy, Young adult, Child, SARS-CoV-2, business.industry, COVID-19, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22b7a1245eb644c4bba199de77e5f49
https://doi.org/10.1515/jpem-2021-0067

المؤلفون: Yagmur Unsal, Murat Yurdakok, Sule Yigit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coskun

المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(11)

مصطلحات موضوعية: Endocrinology, Propionic Acidemia, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Infant, Humans, Hyperammonemia, Acidosis, Amino Acid Metabolism, Inborn Errors, Referral and Consultation, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8788b534d16185352064d7a40f67e7b
https://pubmed.ncbi.nlm.nih.gov/36203204

المؤلفون: Yilmaz Yildiz, Hatice Serap Sivri

المصدر: The Turkish Journal of Gastroenterology. 31:3-16

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Review, Disease, Bioinformatics, Chronic liver disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Diabetes mellitus, Nonalcoholic fatty liver disease, medicine, Humans, Child, business.industry, Fatty liver, Gastroenterology, Infant, nutritional and metabolic diseases, medicine.disease, Obesity, digestive system diseases, 030104 developmental biology, Child, Preschool, Female, 030211 gastroenterology & hepatology, Metabolic syndrome, Differential diagnosis, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729c8f11ae47c3d2c9157c522fb1d961
https://doi.org/10.5152/tjg.2019.19367

المؤلفون: Coşkun T, Ozlem Teksam, Hatice Serap Sivri, Yılmaz Yıldız, Ali Dursun, Leman Akcan Yildiz, Ayşegül Tokatlı

المصدر: European Journal of Pediatrics. 179:1107-1114

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Anion gap, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Maple Syrup Urine Disease, 030225 pediatrics, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Hyperuricemia, Child, Medical History Taking, Physical Examination, Retrospective Studies, Acid-Base Equilibrium, business.industry, Maple syrup urine disease, Infant, nutritional and metabolic diseases, Emergency department, medicine.disease, Uric Acid, Poor Feeding, Logistic Models, ROC Curve, chemistry, Child, Preschool, Acute Disease, Pediatrics, Perinatology and Child Health, Disease Progression, Vomiting, Uric acid, Ketonuria, Female, Emergencies, medicine.symptom, Emergency Service, Hospital, business, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3945baf416b504e97155c0c2865939
https://doi.org/10.1007/s00431-020-03602-x

المؤلفون: Rita Ferla, Pamela Claudiani, Marco Savarese, Karen Kozarsky, Rossella Parini, Maurizio Scarpa, Maria Alice Donati, Giovanni Sorge, John J. Hopwood, Giancarlo Parenti, Simona Fecarotta, Vincenzo Nigro, Hatice Serap Sivri, Ans Van Der Ploeg, Generoso Andria, Nicola Brunetti-Pierri, Alberto Auricchio

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/41628

الاتاحة: https://www.openaccessrepository.it/record/41628
https://doi.org/10.1016/s1525-0016(16)33981-8

المؤلفون: Hatice Serap Sivri, Ali Dursun, Berrak Bilginer Gürbüz, Turgay Coşkun, Ayşegül Tokatlı, Dursun Alehan, Ebru Aypar

المصدر: Journal of Pediatric Endocrinology and Metabolism. 32:1049-1053

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Heart Diseases, Turkey, Clinical cohort, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, 030105 genetics & heredity, Left ventricular hypertrophy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, In patient, Child, Retrospective Studies, business.industry, Incidence, Infant, nutritional and metabolic diseases, Enzyme replacement therapy, Mucopolysaccharidoses, Tricuspid insufficiency, Prognosis, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Female, business, 030217 neurology & neurosurgery, After treatment, Progressive disease, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb48ae1164b778b93ac06c9bcf87aed
https://doi.org/10.1515/jpem-2019-0293

المؤلفون: Hatice Serap Sivri, Yilmaz Yildiz

المصدر: European Journal of Pediatrics. 178:1005-1011

مصطلحات موضوعية: Phenylketonuria, Maternal, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Microcephaly, Turkey, Phenylalanine hydroxylase, Offspring, Single Center, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Pregnancy, Intellectual Disability, 030225 pediatrics, Intellectual disability, medicine, Humans, 030212 general & internal medicine, Retrospective Studies, biology, Obstetrics, business.industry, Pregnancy Outcome, nutritional and metabolic diseases, Infant, Low Birth Weight, medicine.disease, Abortion, Spontaneous, Pediatrics, Perinatology and Child Health, biology.protein, Gestation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2095ded3fd65645513afb10e19443442
https://doi.org/10.1007/s00431-019-03387-8

المؤلفون: Ayşegül Tokatlı, Meryem Uzamiş Tekçiçek, Elif Ballikaya, Hatice Serap Sivri, Nagihan Koç, Yilmaz Yildiz

المصدر: BMC Oral Health
BMC Oral Health, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Gingival inflammation, Dental anomaly, Referral, Turkey, Adolescent, Population, Oral Health, Dental Caries, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Maple syrup disease, Maple Syrup Urine Disease, Dental caries, Intellectual disability, medicine, Humans, Young adult, education, Child, Dental Care, General Dentistry, 0303 health sciences, education.field_of_study, business.industry, Maple syrup urine disease, 030305 genetics & heredity, 030206 dentistry, medicine.disease, Ketoacidosis, Diet, lcsh:RK1-715, stomatognathic diseases, Panoramic radiography, lcsh:Dentistry, Child, Preschool, Oral and maxillofacial surgery, business, Rare disease, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b74dd20e2e50ce140a219048720b29b
http://europepmc.org/articles/PMC7789418

المؤلفون: Yilmaz Yildiz, Hatice Serap Sivri, Helle Highland Nygaard, Ayşegül Tokatlı, Zuhal Akçören, Rikke Katrine Jentoft Olsen

المصدر: Yıldız, Y, Olsen, R K J, Sivri, H S, Akçören, Z, Nygaard, H H & Tokatlı, A 2018, ' Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy ', Neuromuscular Disorders, vol. 28, no. 9, pp. 787-790 . https://doi.org/10.1016/j.nmd.2018.05.009

مصطلحات موضوعية: Male, 0301 basic medicine, Turkey, Physiology, Riboflavin, Frameshift mutation, 03 medical and health sciences, chemistry.chemical_compound, Exon, Fatal Outcome, medicine, Humans, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Multiple Acyl-CoA Dehydrogenase Deficiency, Genetics (clinical), Flavin adenine dinucleotide, Respiratory distress, business.industry, Siblings, Infant, medicine.disease, Nucleotidyltransferases, Hypotonia, 030104 developmental biology, Neurology, chemistry, Hypospadias, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ccacfef5672536465b83d4b62d16e8
https://doi.org/10.1016/j.nmd.2018.05.009

المؤلفون: Şahin Erdöl, Hatice Serap Sivri

المصدر: Molecular Genetics and Metabolism. 132:S101-S102

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Genetics, Medicine, In patient, business, medicine.disease, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e14f789ed8362413d00136163b415448
https://doi.org/10.1016/j.ymgme.2020.12.246

المؤلفون: Haluk Topaloglu, Coşkun T, Goknur Haliloglu, Hatice Serap Sivri, Beril Talim, Zuhal Akçören, Ayşegül Tokatlı, Ali Dursun, Yılmaz Yıldız

المصدر: Pediatric neurology. 103

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Developmental Neuroscience, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Riboflavin, Neurology (clinical), Pediatric Neurology, Multiple Acyl-CoA Dehydrogenase Deficiency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb6d80d2e911bac222e0a9ab14c9531
https://pubmed.ncbi.nlm.nih.gov/31331668

المؤلفون: Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Serdar Ceylaner, Hatice Serap Sivri, Mutluay Arslan, Yilmaz Yildiz, Gökalp Çelik, Çiğdem Seher Kasapkara

المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Glycosylation, Genotype, Turkey, Consanguinity, Congenital Disorders of Glycosylation, Genetics, Prevalence, Medicine, Humans, Allele, Child, Allele frequency, Exome, Genetics (clinical), Subclinical infection, Retrospective Studies, business.industry, Infant, medicine.disease, Phenotype, Phosphotransferases (Phosphomutases), Child, Preschool, Mutation, Sensorineural hearing loss, Female, business, Congenital disorder of glycosylation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bdb334dffe806f9fd0a74f1f1c4234
https://pubmed.ncbi.nlm.nih.gov/31981409

المؤلفون: Turgay Coşkun, Hatice Serap Sivri, Meryem Uzamiş Tekçiçek, Ali Dursun, Elif Ballikaya, Yilmaz Yildiz, Ayşegül Tokatlı, Seval Ölmez

المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 33(3)

مصطلحات موضوعية: Male, Toothbrushing, Pediatrics, medicine.medical_specialty, Plaque index, Adolescent, Endocrinology, Diabetes and Metabolism, Health Status, Dental Plaque, Oral Health, Oral health, Dental Caries, Young Adult, Endocrinology, Phenylketonurias, Prevalence, Medicine, Humans, In patient, Gingival inflammation, Adverse effect, Child, Dental Care, High prevalence, business.industry, Infant, Gingivitis, Gingival index, Child, Preschool, Pediatrics, Perinatology and Child Health, Gingival Diseases, Female, Dietary modifications, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92edb135c6959eb1cb50c8b4431b80f8
https://pubmed.ncbi.nlm.nih.gov/32049652