المؤلفون: Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya

المصدر: JCRPE, Vol 17, Iss Suppl 1, Pp 23-32 (2025)

مصطلحات موضوعية: congenital adrenal hyperplasia, 3-beta-hydroxysteroid dehydrogenase deficiency, 17-alpha hydroxylase deficiency, 11-hydroxylase deficiency, lipoid congenital adrenal hyperplasia, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-98700; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/3b7cb86f9b7541eda439500814a9abb5

المؤلفون: Bas P. H. Adriaansen, Agustini Utari, Dineke Westra, Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Annastasia Ediati, Mariska A. M. Schröder, Paul N. Span, Fred C. G. J. Sweep, Stenvert L. S. Drop, Sultana M. H. Faradz, Antonius E. van Herwaarden, Hedi L. Claahsen – van der Grinten

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: congenital adrenal hyperplasia, 21-hydroxylase deficiencyy, 11-hydroxylase deficiency, glucocorticoid, androgen, virilization, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1410122/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/48f6cb3fd87c455992e4f56a2d178f4c

المؤلفون: Bas P. H. Adriaansen, Mariska A. M. Schröder, Paul N. Span, Fred C. G. J. Sweep, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: Non-classic congenital adrenal hyperplasia (NCCAH), 21-hydroxylase deficiency (21OHD), 11-hydroxylase deficiency (11OHD), treatment options, glucocorticoid treatment, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.1064024/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/98e97c9d76e5434592ee3066ad8017d6

المؤلفون: Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: newborn, 21-hydroxylase deficiency, 11-hydroxylase deficiency, 20–22-desmolase deficiency, StAR deficiency, P-450 oxydoreductase deficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.593315/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/6f4bc2e678d14f1784386e1d2ae93dc0

المؤلفون: Bas P. H. Adriaansen, Agustini Utari, Dineke Westra, Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Annastasia Ediati, Mariska A. M. Schröder, Paul N. Span, Fred C. G. J. Sweep, Stenvert L. S. Drop, Sultana M. H. Faradz, Antonius E. van Herwaarden, Hedi L. Claahsen – van der Grinten

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, congenital adrenal hyperplasia, 21-hydroxylase deficiencyy, 11-hydroxylase deficiency, glucocorticoid, androgen, virilization, 46,XX males, treatment

Relation: https://figshare.com/articles/dataset/Table_1_46_XX_males_with_congenital_adrenal_hyperplasia_a_clinical_and_biochemical_description_docx/26517976

الاتاحة: https://doi.org/10.3389/fendo.2024.1410122.s001
https://figshare.com/articles/dataset/Table_1_46_XX_males_with_congenital_adrenal_hyperplasia_a_clinical_and_biochemical_description_docx/26517976

المؤلفون: Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo

المساهمون: Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo

مصطلحات موضوعية: 11-hydroxylase deficiency, 21-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, XX DSD, Androgen exce, Aromatase deficiency, POR deficiency, XX Disorders of Sex Development, Allele, Androgen, Biomarker, Gene Expression Regulation, Enzymologic, Genetic Testing, Human, Inheritance Pattern, Metabolic Networks and Pathway, Phenotype, Steroid, Genetic Association Studie, Genetic Predisposition to Disease

Time: 46

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31533357; info:eu-repo/semantics/altIdentifier/wos/WOS:000489100500284; volume:20; issue:18; firstpage:1; lastpage:35; numberofpages:35; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11585/726523; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072386447; https://www.mdpi.com/journal/ijms

الاتاحة: http://hdl.handle.net/11585/726523
https://doi.org/10.3390/ijms20184605
https://www.mdpi.com/journal/ijms

المؤلفون: H. Moayeri, A.Rabbani

المصدر: Acta Medica Iranica, Vol 37, Iss 2, Pp 102-105 (1999)

مصطلحات موضوعية: "Congenital adrenal hyperplasia 21-hydroxylase deficiency (21-OHD), 11-hydroxylase deficiency (H-OHD), 3~beta hydroxysteroid dehydrogenase (3-beta HSD), Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4856.pdf&manuscript_id=4856; https://doaj.org/toc/0044-6025

URL الوصول: https://doaj.org/article/8d72f287e25e41b59245cda018fbd09e

المؤلفون: Soara Menabo, Valeria Di Natale, Federico Baronio, Benedetta Vestrucci, Antonio Balsamo, Alessandra Cassio, Rita Ortolano, Lilia Baldazzi, Giacomo Tonti

المساهمون: Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 18, p 4605 (2019)
International Journal of Molecular Sciences

مصطلحات موضوعية: 0301 basic medicine, 46, XX Disorders of Sex Development, Inheritance Patterns, Review, Androgen Excess, Androgen, lcsh:Chemistry, Human reproduction, 0302 clinical medicine, POR deficiency, 46, XX DSD, lcsh:QH301-705.5, Spectroscopy, Allele, medicine.diagnostic_test, 3β-hydroxysteroid dehydrogenase deficiency, General Medicine, POR Deficiency, Phenotype, Computer Science Applications, Androgens, Steroids, Metabolic Networks and Pathways, Human, medicine.medical_specialty, 030209 endocrinology & metabolism, 21-hydroxylase deficiency, Genetic Association Studie, Biology, 46,XX DSD, Catalysis, Gene Expression Regulation, Enzymologic, Inorganic Chemistry, 03 medical and health sciences, Androgen exce, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Physical and Theoretical Chemistry, Molecular Biology, Steroid, Alleles, Genetic Association Studies, Genetic testing, Inheritance Pattern, Organic Chemistry, Hyperandrogenism, Aromatase deficiency, Metabolic Networks and Pathway, Biomarker, medicine.disease, 030104 developmental biology, Endocrinology, lcsh:Biology (General), lcsh:QD1-999, 11-hydroxylase deficiency, androgen excess, Biomarkers

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63c11f60a75f78a7ec7dc6a69f9877e
http://hdl.handle.net/11585/726523

المؤلفون: Atabek, Mehmet Emre, Pirgon, Ozgur, Sert, Ahmet

المساهمون: Selçuk Üniversitesi

مصطلحات موضوعية: 11-hydroxylase deficiency, congenital adrenal hyperplasia, hypokalemia, rhabdomyolysis

Relation: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12395/22448; 21; 93; 96

الاتاحة: https://hdl.handle.net/20.500.12395/22448