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

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 12, 2009, Pages 4992-5000

  Sahakitrungruang, Taninee ^a   Huang, Ningwu ^a   Tee, Meng Kian ^a   Agrawal, Vishal ^a   Russell, William E ^b   Crock, Patricia ^c   Murphy, Nuala ^d   Migeon, Claude J ^e   Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VANDERBILT UNIVERSITY   (United States)

^c JOHN HUNTER CHILDREN S HOSPITAL   (Australia)

^d CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; COMPLEMENTARY DNA; CORTICOTROPIN; CYTOCHROME C; CYTOCHROME P450 REDUCTASE; FLUDROCORTISONE; FOLLITROPIN; HYDROCORTISONE; HYDROXYPROGESTERONE; LUTEINIZING HORMONE; PROGESTERONE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; SEX HORMONE; TESTOSTERONE; TESTOSTERONE CIPIONATE;

ADD ON THERAPY; ADENOIDECTOMY; ADOLESCENT; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BACTERIUM; CASE REPORT; CLINICAL FEATURE; CORTICOTROPIN BLOOD LEVEL; CRANIOFACIAL SURGERY; DNA SEQUENCE; ECHOGRAPHY; FEMALE; FOLLITROPIN BLOOD LEVEL; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC TRAIT; HEARING LOSS; HETEROZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; INBORN ERROR OF METABOLISM; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MICROPENIS; OXIDATION; P450 OXIDOREDUCTASE DEFICIENCY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; PROMOTER REGION; RADIOGRAPHY; SKELETON MALFORMATION; SLEEP APNEA SYNDROME; SYNOSTOSIS; TESTOSTERONE BLOOD LEVEL; TONSILLECTOMY;

EID: 73249131251     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1460     Document Type: Article

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