Zobrazeno 1 - 10
of 71
pro vyhledávání: '"aldosterone synthase deficiency"'
Autor:
Bayan AlNassir, Hessah AlOtaibi
Publikováno v:
Journal of Clinical and Translational Endocrinology Case Reports, Vol 32, Iss , Pp 100164- (2024)
Congenital aldosterone synthase deficiency (ASD) is a rare autosomal recessive condition that causes isolated primary hypoaldosteronism. It has been associated with different pathogenic mutations of the CYP11B2 gene. We report a case of isolated prim
Externí odkaz:
https://doaj.org/article/984ed4654a0a4c90a0c1208a79298eb2
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are s
Externí odkaz:
https://doaj.org/article/47705f664a9b4e2eb245a35bc71cad3e
Autor:
Hande Turan, Aydilek Dağdeviren Çakır, Yavuz Özer, Gürkan Tarçın, Bahar Özcabi, Serdar Ceylaner, Oya Ercan, Saadet Olcay Evliyaoğlu
Publikováno v:
JCRPE, Vol 13, Iss 2, Pp 232-238 (2021)
Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood and is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patient
Externí odkaz:
https://doaj.org/article/e3df53c6513f42b7977be99d23eae3b5
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Autor:
Gül Yeşiltepe Mutlu, Serap Turan, Tulay Guran, Özlem Nalbantoğlu, Agharza Aghayev, Esra Döğer, Atilla Cayir, Jamala Mammadova, Busra Gurpinar Tosun, Mehmet Nuri Ozbek, Sare Betul Kaygusuz, Elvan Bayramoğlu, Yasemin Kendir Demirkol, Tuba Seven Menevse, Abdullah Bereket, Selda Ayça Altıncık
Background Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of the disease in the follow-up. Objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36655e21d589de55133f1035a4f501dc
https://avesis.gazi.edu.tr/publication/details/f1b667a3-29be-4b4f-a085-a8f5b4324f10/oai
https://avesis.gazi.edu.tr/publication/details/f1b667a3-29be-4b4f-a085-a8f5b4324f10/oai
Autor:
Turan, Hande, Dağdeviren Çakır, Aydilek, Özer, Yavuz, Tarçın, Gürkan, Özcabi, Bahar, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Saadet Olcay
Publikováno v:
JCRPE, Vol 13, Iss 2, Pp 232-238 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood and is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::872a7a0cedb2a9a44b90edb5090261a2
https://doaj.org/article/e3df53c6513f42b7977be99d23eae3b5
https://doaj.org/article/e3df53c6513f42b7977be99d23eae3b5
Akademický článek
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Autor:
Isabel Dinis, Rita Cardoso, Adriana Lages, Patricia Oliveira, Francisco Carrilho, Alice Mirante, Beatriz Vale
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 63, Iss 1, Pp 84-88
SUMMARY Hyperreninemic hypoaldosteronism due to aldosterone synthase (AS) deficiency is a rare condition typically presenting as salt-wasting syndrome in the neonatal period. A one-month-old Portuguese boy born to non-consanguineous parents was exami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da101a6612ab9fa2e0ee6906a7741430
https://doi.org/10.20945/2359-3997000000107
https://doi.org/10.20945/2359-3997000000107
Publikováno v:
BMC Endocrine Disorders
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)
Background Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20e96b4df58d610049a95011b3719709
https://pubmed.ncbi.nlm.nih.gov/34243750
https://pubmed.ncbi.nlm.nih.gov/34243750