المؤلفون: Georgios Mitsiakos, Despoina Tramma, Alexia ‐ Angeliki Tagaraki, Kalliopi Dampala, Ilias Chatziioannidis, Paraskevi Karagianni, Vasiliki Soubasi, Christos Tsakalidis, Efthymia Chatzitoliou, Evgeniya Babatseva, Maria Lithoxopoulou, Kleanthis Anastasiadis, Efthymia Papacharalambous

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2541-2544 (2020)
Clinical Case Reports

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Medicine (General), intrauterine growth restriction, Offspring, Intrauterine growth restriction, Case Report, Case Reports, eating disorders, 030204 cardiovascular system & hematology, Bartter syndrome, 03 medical and health sciences, 0302 clinical medicine, R5-920, medicine, hypokalemia, Fetus, Pregnancy, business.industry, fungi, food and beverages, General Medicine, medicine.disease, Hypokalemia, pseudo‐Bartter syndrome, Eating disorders, metabolic alkalosis, 030220 oncology & carcinogenesis, Medicine, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d8dd9e2078459c9071543335d0f369Test
https://doaj.org/article/e6d1d17cdd644f95a3b0f62c1594ce7eTest

المؤلفون: Mojgan Faraji-Goodarzi

المصدر: Clinical Case Reports
Clinical Case Reports, Vol 7, Iss 6, Pp 1123-1126 (2019)

مصطلحات موضوعية: Vitamin, medicine.medical_specialty, endocrine system diseases, medicine.drug_class, Antibiotics, Metabolic alkalosis, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, Pseudo‐Bartter syndrome, Bartter syndrome, Gastroenterology, Cystic fibrosis, cystic fibrosis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, lcsh:R5-920, business.industry, lcsh:R, Genetic disorder, nutritional and metabolic diseases, General Medicine, medicine.disease, Hypokalemia, metabolic alkalosis, chemistry, 030220 oncology & carcinogenesis, medicine.symptom, lcsh:Medicine (General), Hyponatremia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800aa2d2ae6355e68f9bd1d537b4cfd7Test
https://doi.org/10.1002/ccr3.2180Test

المؤلفون: Ayşen Bingöl, Zeynep Tamay, Cem Murat Bal, Haluk Cokugras, Sevgi Pekcan, Abdurrahman Erdem Başaran, Hasan Yuksel, Şenay Şaşihüseyinoğlu, Ayse Tana Aslan, Deniz Dogru, Ali Özdemir, Ayse Ayzit Kilinc, Güzin Cinel, Ugur Ozcelik, Ömür Ercan, Gönül Çaltepe, Şükrü Çekiç, Derya Ufuk Altintas, Gokcen Dilsa Tugcu, Nural Kiper, Nagehan Emiralioglu, Ozge Yilmaz, Erkan Cakir, Mehmet Köse, Tugba Sismanlar, Hakan Yazan, Nazan Cobanoglu, Ebru Yalcin, Fazil Orhan, Lina Muhammed Al Shadfan, Melih Hangül, Erdem Topal, Ozlem Keskin, Ayşe Süleyman, Zeynep Gökçe Gayretli Aydın, Demet Can, Velat Şen, Sevgi Bilgic Eltan, Nihat Sapan, Tugba Ramasli Gursoy, Hadice Selimoglu Sen

المساهمون: Tıp Fakültesi, Ondokuz Mayıs Üniversitesi, ÇAKIR, Erkan, Çukurova Üniversitesi, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri/Çocuk Sağlığı ve Hastalıkları Bölümü., Sapan, Nihat, Çekiç, Şükrü, L-1933-2017, Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey, Division of Pediatric Pulmonology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Ankara University, Ankara, Turkey, Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey, Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Department of Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey, Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey, Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey, Division of Pediatric Pulmonology, Mersin City Training and Research Hospital, Mersin, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Division of Pediatric Pulmonology, Gaziantep Cengiz Gökçek Maternity and Children Hospital, Gaziantep, Turkey, Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey, Division of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Division of Pediatric Infectious Disease, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Division of Pediatric Allergy, Faculty of Medicine, İnönü University, Malatya, Turkey, Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey, Division of Pediatric Pulmonology, Atatürk Regional Training and Research Hospital, Erzurum, Turkey, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey

مصطلحات موضوعية: Newborn screening, Male, Hemoptysis, Turkey, Turkish, Azithromycin, Pediatrics, Cystic fibrosis, cystic fibrosis, Diabetes mellitus, 0302 clinical medicine, Child death, Corticosteroid, Insulin, Medicine, Child, Gastrostomy, Patient registry, National Registry, Chronic liver disease, Pneumothorax, Dornase alfa, Gastroesophageal reflux, Patient Registry, Ursodeoxycholic acid, Child, Preschool, Bisphosphonic acid derivative, Forced expiratory volume, Human, Pulmonary and Respiratory Medicine, Health care facility, medicine.medical_specialty, Genotype, First data from the national registry.-, Pediatric pulmonology, cilt.55, ss.541-548, 2020 [Dogru D., Çakır E., Şişmanlar T., Çobanoğlu N., Pekcan S., Cinel G., Yalçın E., Kiper N., Şen V., S Ş., et al., -Cystic fibrosis in Turkey], Meconium Ileus, Major clinical study, national registry, Proton pump inhibitor, Article, 03 medical and health sciences, Age, Neonatal Screening, Allergic bronchopulmonary aspergillosis, Genetics, Humans, Access to information, Sinusitis, Genotyping, Demography, Internet, Infant, Missing data, medicine.disease, Gene frequency, Malignant neoplasm, 030228 respiratory system, Pancreas enzyme, Mutation, Osteoporosis, School child, Bronchodilating agent, Complication, Cystic Fibrosis, Cftr gene, Cystic Fibrosis Transmembrane Conductance Regulator, Turkey (republic), patient registry, Information processing, Turkey (bird), Mannitol, Registries, Meconium ileus, Priority journal, Antibiotic agent, Register, Middle Aged, Bacterial colonization, Pseudo-bartter-syndrome, Pseudomonas aeruginosa, Tobramycin, Pseudomonas infection, Female, Mutations, Sweat test, Adult, Adolescent, Sodium chloride, Patient care, Respiratory system, Chloride, Vitamin, 030225 pediatrics, Gene mutation, Disease registry, Colistin, business.industry, Infant, Newborn, Bartter Syndrome, Alkalosis, Newborn, Bartter syndrome, Lung function, Preschool child, Pediatrics, Perinatology and Child Health, Calcium, Data analysis software, National registry, Prediction, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1faccf6e913f3a19a178374b59fcceTest
https://hdl.handle.net/20.500.12462/10481Test

المؤلفون: Kazumoto Iijima, Naoya Morisada, Mariko Taniguchi-Ikeda, Natsuki Matsunoshita, Tomohiko Yamamura, Shingo Ishimori, Shogo Minamikawa, Azusa Kawaguchi, Masahide Yoshikane, Takeshi Ninchoji, Keita Nakanishi, Hiroshi Kaito, Ichiro Morioka, Junya Fujimura, Tomoko Horinouchi, Kandai Nozu, Naoya Fujita, Hiroaki Nagase

المصدر: Journal of human genetics. 63(8)

مصطلحات موضوعية: 0301 basic medicine, Diarrhea, Male, Congenital chloride diarrhea, Dent Disease, SLC26A3, Pseudo-Gitelman syndrome, Compound heterozygosity, Bartter syndrome, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Humans, 030212 general & internal medicine, Child, Genetics (clinical), Genetic testing, Sanger sequencing, biology, medicine.diagnostic_test, Pseudo-Bartter syndrome, Base Sequence, business.industry, Bartter Syndrome, Infant, Sequence Analysis, DNA, Gitelman syndrome, medicine.disease, 030104 developmental biology, biology.protein, symbols, Targeted sequencing, Next-generation sequencing, Female, business, Gitelman Syndrome, Metabolism, Inborn Errors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c916d4dd13d1599d912bfc4c117d2cTest
https://pubmed.ncbi.nlm.nih.gov/29849040Test