Literature DB >> 9543177

Why nobody has P450scc (20,22 desmoslase) deficiency.

W L Miller.   

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Year:  1998        PMID： 9543177     DOI： 10.1210/jcem.83.4.4734-7

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  6 in total

1.  Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Authors:  Chan Jong Kim; Lin Lin; Ningwu Huang; Charmian A Quigley; Theodore W AvRuskin; John C Achermann; Walter L Miller
Journal:  J Clin Endocrinol Metab       Date:  2008-01-08       Impact factor: 5.958

Review 2.  Congenital lipoid adrenal hyperplasia.

Authors:  Chan Jong Kim
Journal:  Ann Pediatr Endocrinol Metab       Date:  2014-12-31

Review 3.  Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.

Authors:  Noriyuki Katsumata
Journal:  Clin Pediatr Endocrinol       Date:  2007-08-08

4.  Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Authors:  Claire Goursaud; Delphine Mallet; Alexandre Janin; Rita Menassa; Véronique Tardy-Guidollet; Gianni Russo; Anne Lienhardt-Roussie; Claudine Lecointre; Ingrid Plotton; Yves Morel; Florence Roucher-Boulez
Journal:  Front Endocrinol (Lausanne)       Date:  2018-09-05       Impact factor: 5.555

5.  Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Authors:  Avinaash Maharaj; Federica Buonocore; Eirini Meimaridou; Gerard Ruiz-Babot; Leonardo Guasti; Hwei-Ming Peng; Cameron P Capper; Neikelyn Burgos-Tirado; Rathi Prasad; Claire R Hughes; Ashwini Maudhoo; Elizabeth Crowne; Timothy D Cheetham; Caroline E Brain; Jenifer P Suntharalingham; Niccolò Striglioni; Bilgin Yuksel; Fatih Gurbuz; Sangay Gupta; Robert Lindsay; Robert Couch; Helen A Spoudeas; Tulay Guran; Stephanie Johnson; Dallas J Fowler; Louise S Conwell; Aideen M McInerney-Leo; Delphine Drui; Bertrand Cariou; Juan P Lopez-Siguero; Mark Harris; Emma L Duncan; Peter C Hindmarsh; Richard J Auchus; Malcolm D Donaldson; John C Achermann; Louise A Metherell
Journal:  J Endocr Soc       Date:  2018-10-30

Review 6.  Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.

Authors:  Antonio Balsamo; Federico Baronio; Rita Ortolano; Soara Menabo; Lilia Baldazzi; Valeria Di Natale; Sofia Vissani; Alessandra Cassio
Journal:  Front Pediatr       Date:  2020-12-22       Impact factor: 3.418
  6 in total

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