المؤلفون: Gil Silva, Maria Nicole Pestana, Francisca Silva, José Durães

المصدر: BMJ Case Rep

مصطلحات موضوعية: Adult, Male, Enzyme deficiency, Mutation, Missense, Case Report, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, Genetics, business.industry, Specific mutation, General Medicine, Middle Aged, medicine.disease, Fabry disease, Phenotype, alpha-Galactosidase, Mutation (genetic algorithm), Mutation, Fabry Disease, Female, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a0d2f955c4cc92a087ff0fd04a1d2eTest
https://pubmed.ncbi.nlm.nih.gov/33649041Test

المؤلفون: Betul Danisman, Erdogan Bulut, Özlem Tuğçe Çilingir Kaya, Narin Derin, Serap Sirvanci, Mustafa Yilmaz, Nuray Ensari, Bahri Gezgin, Özer Erdem Gür, Nevreste Didem Sonbay Yilmaz, Nurdan Aygener

المصدر: Acta Oto-Laryngologica. 139:677-684

مصطلحات موضوعية: Male, medicine.medical_specialty, Auditory Pathways, Enzyme deficiency, Hearing loss, Biotin deficiency, macromolecular substances, 03 medical and health sciences, chemistry.chemical_compound, Fetus, 0302 clinical medicine, Biotin, Pregnancy, Internal medicine, Evoked Potentials, Auditory, Brain Stem, Animals, Lactation, Medicine, Rats, Wistar, 030223 otorhinolaryngology, Organ of Corti, Biotinidase Deficiency, business.industry, musculoskeletal, neural, and ocular physiology, General Medicine, medicine.disease, Disease Models, Animal, Microscopy, Electron, Endocrinology, nervous system, Otorhinolaryngology, chemistry, 030220 oncology & carcinogenesis, Biotinidase, Female, medicine.symptom, business, Neurological problems

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fade014c82791de3295e4d4fc78f109Test
https://doi.org/10.1080/00016489.2019.1614665Test

المؤلفون: Ezequiel Moreira Gonçalves, Bruno Geloneze, Gil Guerra-Júnior, Juliano H. Borges, Sofia Helena Valente de Lemos-Marini, Renata Isa Santoro, Daniel Minutti de Oliveira

المصدر: International journal of clinical practiceREFERENCES. 75(7)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Enzyme deficiency, Adolescent, 030204 cardiovascular system & hematology, Carotid Intima-Media Thickness, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, 030212 general & internal medicine, Young adult, biology, Adrenal Hyperplasia, Congenital, business.industry, Ultrasound, 21-Hydroxylase, General Medicine, medicine.disease, Echocardiography, Heart failure, Cardiac hypertrophy, Case-Control Studies, biology.protein, Cardiology, Female, Steroid 21-Hydroxylase, business, Glucocorticoid, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03665785555443610e7864c161db5869Test
https://pubmed.ncbi.nlm.nih.gov/33884716Test

المؤلفون: Balasubramaniyan Muthuvel, Rimesh Pal, Devi Dayal, Akanksha Gautam, Inusha Panigrahi

المصدر: Pediatric endocrinology, diabetes, and metabolism. 26(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Enzyme deficiency, endocrine system diseases, Adrenal Hyperplasia, Congenital, business.industry, nutritional and metabolic diseases, Cyp21a2 gene, General Medicine, Twins, Monozygotic, urologic and male genital diseases, medicine.disease, female genital diseases and pregnancy complications, Simple-virilising congenital adrenal hyperplasia, Child, Preschool, Mutation, medicine, Humans, Congenital adrenal hyperplasia, Female, Steroid 21-Hydroxylase, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c8ec9e3c56028ed9caf3b4dd32016dTest
https://pubmed.ncbi.nlm.nih.gov/32272826Test

المؤلفون: Michał Nowicki, Jolanta Malyszko, Katarzyna Muras-Szwedziak, Katarzyna Mizia-Stec, Monika Komar, Mariusz Kusztal, Piotr Podolec, Krzysztof Pawlaczyk, Tomasz Liberek, Jarosław Sławek

المصدر: F1000Research

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Enzyme deficiency, Adolescent, Patient characteristics, Kidney, General Biochemistry, Genetics and Molecular Biology, Young Adult, α galactosidase, media_common.cataloged_instance, Medicine, Humans, Enzyme Replacement Therapy, globotriaosylsphingosine, European union, General Pharmacology, Toxicology and Pharmaceutics, media_common, Genetic testing, globotriaosylceramide, Aged, Fabry disease, medicine.diagnostic_test, General Immunology and Microbiology, business.industry, Brief Report, ultra-rare disease, Enzyme replacement therapy, Articles, General Medicine, Middle Aged, medicine.disease, α-galactosidase, alpha-Galactosidase, Female, Poland, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de236877061d709efe1273c0b7ce3c23Test
https://doi.org/10.12688/f1000research.55313.1Test

المؤلفون: Iván D. Vélez, Wuelton Marcelo Monteiro, Lindsay Kendall, Siôn W. Jones, Victoria M Rousell, Raul Chuquiyauri, Chayadol S Namaik-Larp, Justin A. Green, Marcus V. G. Lacerda, Graham Craig, Marcelo A M Brito, François Nosten, Gavin C. K. W. Koh, Fernando Val, Cindy S. Chu, Elizabeth Hardaker, Ratchadaporn Papwijitsil, Tran Tinh Hien, Sandra Aruachan, Donna D Clover, Martin Casapia, Alejandro Llanos-Cuentas, Germana Bancone, Brian Angus, Viviana M Wilches, Maria F Villegas, Chau H Nguyen, John J Breton, Stephan Duparc, Monica R. F. Costa, Khadeeja Mohamed

المصدر: The New England Journal of Medicine

مصطلحات موضوعية: Male, double blind procedure, Kaplan Meier method, insomnia, Plasmodium vivax, diarrhea, Parasitemia, Primaquine, tafenoquine, aminoquinoline derivative, chloroquine, 0302 clinical medicine, Secondary Prevention, Prospective Studies, disease free survival, comparative study, upper abdominal pain, adult, clinical trial, General Medicine, nausea, backache, priority journal, disease severity, Drug Therapy, Combination, prospective study, complication, QT prolongation, Relapse prevention, Article, Disease-Free Survival, 03 medical and health sciences, Antimalarials, blurred vision, Humans, human, procedures, glucose 6 phosphate dehydrogenase deficiency, treatment duration, hemoglobin, medicine.disease, major clinical study, drug efficacy, multicenter study, chemistry, Immunology, randomized controlled trial, asthenia, urinary tract infection, Malaria, methemoglobinemia, vomiting, drug safety, Tafenoquine, recurrent disease, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, chemistry.chemical_compound, Hemoglobins, Chloroquine, Recurrence, creatine kinase blood level, 030212 general & internal medicine, Antimalarial Agent, fever, glucose 6 phosphate dehydrogenase, biology, Plasmodium vivax malaria, rhinopharyngitis, single drug dose, enzyme activity, G6PD protein, human, female, Aminoquinolines, Original Article, enzyme deficiency, headache, medicine.drug, combination drug therapy, Adolescent, side effect, alanine aminotransferase, Glucosephosphate Dehydrogenase, Double-Blind Method, parasitic diseases, medicine, hypokalemia, Malaria, Vivax, pneumonia, controlled study, coughing, dizziness, hemoglobin blood level, phase 3 clinical trial, business.industry, antimalarial agent, creatine kinase, isolation and purification, pharyngitis, pruritus, biology.organism_classification, purl.org/pe-repo/ocde/ford#3.02.00 [https], Glucosephosphate Dehydrogenase Deficiency, business, metabolism, alanine aminotransferase blood level

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1301e8e7c12abf617a49c556a3c81afcTest
https://hdl.handle.net/20.500.12866/6917Test

المؤلفون: Sevim Karakas Celik, Tuba Edgünlü, Erdal Eren, Emre Asut

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Asut, Emre, HJH-3690-2023, Zonguldak Bülent Ecevit Üniversitesi, MÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Edgünlü, Tuba

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, Luteinizing hormone, Gonadectomy, Turkey, Endocrinology, Diabetes and Metabolism, Transcription factor sox, Reductase, Gene, Pediatrics, law.invention, Precocious puberty, 0302 clinical medicine, Endocrinology, Ala65Pro gene, Genital system, Ambiguous genitalia, Membrane proteins, Primary amenorrhea, Medicine, Clitoromegaly, Child, Abnormal karyotype, Endocrinology & metabolism, SRD5A2 gene, Disorder of sex development, Gonad, Polymerase chain reaction, Nuclear magnetic resonance imaging, Testis determining factor, 030220 oncology & carcinogenesis, Dihydrotestosterone, Deficiency, 5-Alpha-Reductase, Steroid 5alpha reductase, Human, Disorders of sex development, Dutasteride, 5-alpha Reductase Inhibitors, Oxidoreductases, Clinical article, Article, 03 medical and health sciences, Genetics, Humans, Polymorphism, Chemiluminescence immunoassay, Infant, Body weight, Karyotype 46,XY, medicine.disease, Steroid 5alpha reductase 2, Body height, Membrane protein, Inguinal canal, Mutation, Polymorphism, single nucleotide, School child, Defect, Androstanolone, 5-alpha-reductase, Type-2, SRD5A2 protein, human, Exon, law, DNA mutational analysis, Testosterone, 46,XY Disorders of Sex Development, 46,XY disorders of sex development, Karyotype 47,XXY, Genetic analysis, Breast development, Original Article, Female, Chromosome aberration, medicine.drug, Risk, Adult, XY disorders of sex development, Child, preschool, Endokrinoloji ve Metabolizma, 030209 endocrinology & metabolism, V89L gene, Hormone substitution, Gene mutation, Enzyme deficiency, Gene amplification, Genetic polymorphism, business.industry, 3-oxo-5-alpha-steroid 4-dehydrogenase, Follitropin, Gender dysphoria, Single nucleotide polymorphism, Young adult, Pediatri, Preschool child, SRD5A2, Pediatrics, Perinatology and Child Health, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f37c4243ec72bf3104dbc285e8d564bTest
https://doi.org/10.4274/jcrpe.2495Test

المؤلفون: Neziha Kaabachi, Zeineb Ben Ameur, Hajer Mansouri, Sonia Abdelhak, Neji Tebib, Sana Ben Messaoud, Yosra Sassi, Rim Ben Abdelaziz, Hela Boudabous, Hatem Azzouz, Amel Ben Chehida, Kaouthar Hakim, Mohamed Slim Abdelmoula, Nadia Ben Ali

المساهمون: Hôpital La Rabta [Tunis], Université de Tunis El Manar (UTM), Hôpital Charles Nicolle [Tunis], Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)

المصدر: Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter, 2018, ⟨10.1515/jpem-2018-0151⟩

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Longitudinal study, Tunisia, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, debranching enzyme deficiency, neuromuscular diseases, Glycogen storage disease type III, Hepatic Complication, Short stature, Gastroenterology, 03 medical and health sciences, Liver disease, Glycogen Storage Disease Type III, 0302 clinical medicine, Endocrinology, hyperlipemia, Internal medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], medicine, Humans, Longitudinal Studies, Child, Retrospective Studies, 2. Zero hunger, business.industry, Hypertriglyceridemia, Starch, medicine.disease, Prognosis, Obesity, 3. Good health, Diet, nutrition, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, liver disease, business, cardiomyopathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10ad9a138d60f18cf74e1653b42b1c8Test
https://pubmed.ncbi.nlm.nih.gov/30110253Test

المؤلفون: Ignacio Valencia, Sudip Sheth, Aditya Jayaraman, Michael J. Goldenthal, William R. Yorns, Agustin Legido

المصدر: Journal of Child Neurology. 27:398-401

مصطلحات موضوعية: Mitochondrial DNA, Pathology, medicine.medical_specialty, Mitochondrial disease, DNA Mutational Analysis, Buccal swab, Mouth Mucosa, Buccal administration, Biology, medicine.disease, DNA, Mitochondrial, MERRF Syndrome, chemistry.chemical_compound, chemistry, Ragged-red fibers, Pediatrics, Perinatology and Child Health, medicine, Humans, Myoclonic epilepsy, Female, Neurology (clinical), Child, Mitochondrial Enzyme Deficiency, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe919789fba1f693accc699c0b1b111Test
https://doi.org/10.1177/0883073811420870Test

المؤلفون: Carrie J. Finno, Stephanie J. Valberg, Sharon J. Spier

المصدر: The Veterinary Journal. 179:336-347

مصطلحات موضوعية: Male, Severe combined immunodeficiency, Mutation, General Veterinary, Chromosome Mapping, Disease, Biology, Prognosis, medicine.disease, medicine.disease_cause, Glycogen Branching Enzyme Deficiency, Horse genome, Hereditary equine regional dermal asthenia, Immunology, Prevalence, medicine, Animals, Female, Genetic Predisposition to Disease, Horse Diseases, Animal Science and Zoology, Horses, Hyperkalemic periodic paralysis, Junctional epidermolysis bullosa (veterinary medicine)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1cdb9790a012dd64697a096edaac51Test
https://doi.org/10.1016/j.tvjl.2008.03.016Test