Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Hdl Handle:
http://hdl.handle.net/10147/263359
Title:
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
Authors:
Sahakitrungruang, Taninee; Huang, Ningwu; Tee, Meng Kian; Agrawal, Vishal; Russell, William E; Crock, Patricia; Murphy, Nuala; Migeon, Claude J; Miller, Walter L
Affiliation:
Department of Pediatrics, University of California San Francisco, San Francisco, California 94143, USA.
Citation:
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 2009, 94 (12):4992-5000 J. Clin. Endocrinol. Metab.
Journal:
The Journal of clinical endocrinology and metabolism
Issue Date:
Dec-2009
URI:
http://hdl.handle.net/10147/263359
DOI:
10.1210/jc.2009-1460
PubMed ID:
19837910
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795645/
Abstract:
P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.
Item Type:
Article
Language:
en
MeSH:
Adolescent; Adult; Bone and Bones; Catalysis; Cytochromes c; DNA; Disorders of Sex Development; Escherichia coli; Female; Genetic Vectors; Genitalia; Hormones; Humans; Infant, Newborn; Infertility; Male; Mutation; NADP; NADPH-Ferrihemoprotein Reductase; Pregnancy; Steroid 17-alpha-Hydroxylase; Syndrome
ISSN:
1945-7197

Full metadata record

DC FieldValue Language
dc.contributor.authorSahakitrungruang, Tanineeen_GB
dc.contributor.authorHuang, Ningwuen_GB
dc.contributor.authorTee, Meng Kianen_GB
dc.contributor.authorAgrawal, Vishalen_GB
dc.contributor.authorRussell, William Een_GB
dc.contributor.authorCrock, Patriciaen_GB
dc.contributor.authorMurphy, Nualaen_GB
dc.contributor.authorMigeon, Claude Jen_GB
dc.contributor.authorMiller, Walter Len_GB
dc.date.accessioned2012-12-20T12:32:04Z-
dc.date.available2012-12-20T12:32:04Z-
dc.date.issued2009-12-
dc.identifier.citationClinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 2009, 94 (12):4992-5000 J. Clin. Endocrinol. Metab.en_GB
dc.identifier.issn1945-7197-
dc.identifier.pmid19837910-
dc.identifier.doi10.1210/jc.2009-1460-
dc.identifier.urihttp://hdl.handle.net/10147/263359-
dc.description.abstractP450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.en_GB
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795645/en_GB
dc.rightsArchived with thanks to The Journal of clinical endocrinology and metabolismen_GB
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshBone and Bones-
dc.subject.meshCatalysis-
dc.subject.meshCytochromes c-
dc.subject.meshDNA-
dc.subject.meshDisorders of Sex Development-
dc.subject.meshEscherichia coli-
dc.subject.meshFemale-
dc.subject.meshGenetic Vectors-
dc.subject.meshGenitalia-
dc.subject.meshHormones-
dc.subject.meshHumans-
dc.subject.meshInfant, Newborn-
dc.subject.meshInfertility-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshNADP-
dc.subject.meshNADPH-Ferrihemoprotein Reductase-
dc.subject.meshPregnancy-
dc.subject.meshSteroid 17-alpha-Hydroxylase-
dc.subject.meshSyndrome-
dc.titleClinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Pediatrics, University of California San Francisco, San Francisco, California 94143, USA.en_GB
dc.identifier.journalThe Journal of clinical endocrinology and metabolismen_GB
dc.description.provinceLeinsteren

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