Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ruth Kwong"'
Autor:
Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad
Publikováno v:
Endocrine Connections, Vol 11, Iss 8, Pp 1-13 (2022)
Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Other variable endocrine manifesta
Externí odkaz:
https://doaj.org/article/998cb49010bf449f9664169eafe1b31b
Autor:
Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Ezzat Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Lou Metherell, Rathi Prasad
Publikováno v:
European Journal of Endocrinology. 188
Adrenocortical carcinomas (ACCs) are invasive tumours arising in the adrenal cortex, and steroidogenic tumours are associated with worse prognostic outcomes. Loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1) cause primary adrenal in
Autor:
Jack Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Louise Metherell, Rathi Prasad
Publikováno v:
Endocrine Abstracts.
Autor:
Ruth Kwong, Avinaash Maharaj, Charlotte L. Hall, Rathi Prasad, Jack Williams, Lou Metherell, Christopher J. Smith
Publikováno v:
Endocrine Abstracts.
Publikováno v:
Journal of the Endocrine Society
Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) was described in 2017 as a novel condition affecting sphingolipid metabolism. There is a multisystemic phenotype including nephrotic syndrome and primary adrenal insufficiency (PAI) and to
Publikováno v:
Urology. 154
Anterior urethral syringocele is an uncommon congenital deformity characterized by cystic dilatation of bulbourethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroure