المؤلفون: Rita M. Cardoso, Isabel Inácio, Joana Serra-Caetano, Alice Mirante, Isabel Dinis

المصدر: Journal of Clinical Research in Pediatric Endocrinology. 15:86-89

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, endocrine system diseases, business.industry, Endocrinology, Diabetes and Metabolism, Virilization, urologic and male genital diseases, medicine.disease, Short stature, chemistry.chemical_compound, Endocrinology, Testis determining factor, Dehydroepiandrosterone sulfate, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Turner syndrome, medicine, Congenital adrenal hyperplasia, medicine.symptom, business, Hydrocortisone, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4d47d9ed7136f8d93c124806997171Test
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0174Test

المؤلفون: Philippe Touraine, Raphaele Renard Penna, Monique Leban, Jérôme Dulon, Anne Bachelot, Marion Lapoirie

المساهمون: Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Institut E3M [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d’Endocrinologie, Métabolisme et Prévention des Risques Cardio-Vasculaires [CHU Pitié-Salpêtrière], Service de Radiologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Endocrinologie, Métabolisme et Prévention des Maladies Cardio-vasculaires [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service d'Endocrinologie et Médecine de la Reproduction [CHU Pitié-Salpêtrière], Gestionnaire, HAL Sorbonne Université 5

المصدر: European Journal of Endocrinology
European Journal of Endocrinology, BioScientifica, 2021, ⟨10.1530/EJE-20-0787⟩
European Journal of Endocrinology, 2021, ⟨10.1530/EJE-20-0787⟩

مصطلحات موضوعية: Adult, Male, mitotane, endocrine system, medicine.medical_specialty, Antineoplastic Agents, Hormonal, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Urology, 030209 endocrinology & metabolism, Semen, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Testicular Neoplasms, Internal medicine, medicine, Adrenal Rest Tumor, Humans, congenital adrenal hyperplasia, Endocrine system, Mitotane, Congenital adrenal hyperplasia, Young adult, Retrospective Studies, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, fertility, Azoospermia, Adrenal Hyperplasia, Congenital, 21-OH deficiency, business.industry, Retrospective cohort study, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, Treatment Outcome, adrenal rest tumors, sperm analysis, 030220 oncology & carcinogenesis, business, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61400aff1dd081be080eabd039418f58Test
https://doi.org/10.1530/eje-20-0787Test

المؤلفون: Emma Domínguez Alonso, Henrik Falhammar, Tania Mayvel Espinosa Reyes, Gisselle Leyva González

المصدر: Hormone Research in Paediatrics. 94:1-8

مصطلحات موضوعية: Adult, Male, Adolescent, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Physiology, Young Adult, Absorptiometry, Photon, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Bone Density, medicine, Humans, Congenital adrenal hyperplasia, Femur, Child, Glucocorticoids, Testosterone, Dual-energy X-ray absorptiometry, Bone mineral, Lumbar Vertebrae, Adrenal Hyperplasia, Congenital, medicine.diagnostic_test, business.industry, Hyperandrogenism, medicine.disease, Cross-Sectional Studies, Fludrocortisone, Pediatrics, Perinatology and Child Health, Female, business, Body mass index, Glucocorticoid, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b815ab2debd6fc716f86bc713f16a361Test
https://doi.org/10.1159/000515833Test

المؤلفون: Adriana Agramonte Machado, Henrik Falhammar, Emma Domínguez Alonso, Teresa Collazo Mesa, Tania Mayvel Espinosa Reyes, Paulina Arasely Lantigua Cruz

المصدر: BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-8 (2020)
BMC Endocrine Disorders

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Genetic counseling, Population, 030209 endocrinology & metabolism, medicine.disease_cause, Compound heterozygosity, Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Internal medicine, Point mutations, medicine, Genetics, Humans, Congenital adrenal hyperplasia, education, education.field_of_study, Mutation, lcsh:RC648-665, Adrenal Hyperplasia, Congenital, business.industry, Point mutation, Infant, Newborn, Infant, General Medicine, Prognosis, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Female, Steroid 21-Hydroxylase, business, Biomarkers, Follow-Up Studies, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0040d364eaa6793c8d58b9e47c47aafbTest
http://link.springer.com/article/10.1186/s12902-020-00643-zTest

المؤلفون: Bingqing Yu, Lin Lu, Yaling Zhao, Wang Xi, Shuying Li, Jangfeng Mao, Min Nie, Yinjie Gao, Xueyan Wu

المصدر: Endocrine Practice. 26:997-1002

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Urology, Puberty, Precocious, 030209 endocrinology & metabolism, Short stature, Gonadotropin-Releasing Hormone, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, medicine, Humans, 030212 general & internal medicine, Child, Retrospective Studies, Aromatase inhibitor, Adrenal Hyperplasia, Congenital, Aromatase Inhibitors, Human Growth Hormone, business.industry, Virilization, Retrospective cohort study, Bone age, General Medicine, Androgen, medicine.disease, Body Height, Child, Preschool, Bone maturation, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0db45b25b2413cf0496f3166dd14268Test
https://doi.org/10.4158/ep-2019-0610Test

المؤلفون: Zaure Mussakhanova, Ardak Orazbay, Tamara Ermakhanova, Oral Onlassynova, Malika Akhmerova, Aluash Satybaldina, Aikerim Slamova, Rimma Bazarbekova, Ayaulym Alpan

المصدر: Journal "Medicine". :26-32

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, business.industry, Internal medicine, medicine, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::462d970c7f3bb43fcb9fc95e051cc690Test
https://doi.org/10.31082/1728-452x-2020-213-214-3-4-26-32Test

المؤلفون: Mirjana Kocova, Violeta Anastasovska, Henrik Falhammar

المصدر: Endocrine

مصطلحات موضوعية: 0301 basic medicine, Genotype, Endocrinology, Diabetes and Metabolism, Physiology, 030209 endocrinology & metabolism, Review, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Diabetes mellitus, Diagnosis, medicine, Humans, Congenital adrenal hyperplasia, Allele, Mexico, Simple virilizing, Adrenal Hyperplasia, Congenital, business.industry, Nonclassic, Incidence (epidemiology), medicine.disease, Phenotype, CYP21A2, Europe, 030104 developmental biology, Mutation (genetic algorithm), Mutation, Therapy, Steroid 21-Hydroxylase, business, P30L

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9bbe8cdbf94ac341758ce0ddd0c97bcTest
http://europepmc.org/articles/PMC7392929Test

المؤلفون: Heba Baz, Yasmine Elshiwy, Heba Asfour, Fatma El-Mougy, Marwa Elsharkawy, Hend Soliman, Marianne F. Morgan

المصدر: Beni-Suef University Journal of Basic and Applied Sciences, Vol 10, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Medicine (General), endocrine system, medicine.medical_specialty, Science, Pharmaceutical Science, Medicine (miscellaneous), Tandem mass spectrometry, Mass spectrometry, 03 medical and health sciences, R5-920, 0302 clinical medicine, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 21 hydroxylase deficiency, Internal medicine, medicine, Congenital adrenal hyperplasia, 030212 general & internal medicine, Steroid 11-beta-hydroxylase, 030304 developmental biology, 0303 health sciences, biology, business.industry, 21-Hydroxylase, Radioimmunoassay, medicine.disease, Agricultural and Biological Sciences (miscellaneous), Endocrinology, biology.protein, Hydroxyprogesterone, business, 11 deoxycortisol

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d212f0830d12cb335e341cb22f6cdfc2Test
https://doi.org/10.1186/s43088-021-00132-9Test

المؤلفون: Borysewicz-Sanczyk Hanna, Beata Sawicka, Artur Bossowski

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, business.industry, media_common.quotation_subject, Physiology, Medicine, Girl, business, medicine.disease, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::82bafb4352f720cea82c1192c3cc44dbTest
https://doi.org/10.1530/endoabs.73.aep797Test

المؤلفون: Jing Xu, Pin Li

المصدر: Clinical Biochemistry. 68:44-49

مصطلحات موضوعية: 030213 general clinical medicine, Clinical Biochemistry, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Asian People, medicine, Humans, Congenital adrenal hyperplasia, Allele, Gene, Retrospective Studies, Sanger sequencing, Genetics, Mutation, Adrenal Hyperplasia, Congenital, Point mutation, General Medicine, medicine.disease, symbols, Pseudogenes, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa348aa49e61e27644a550d3a88d49d6Test
https://doi.org/10.1016/j.clinbiochem.2019.04.008Test