Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia

Journal of Pediatric Endocrinology and Metabolism

Volumn 11, Issue 6, 1998, Pages 707-711

  Yoo, Han Wook ^a   Kim, Gu Hwan ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

Carrier frequency; Clinical findings; Congenital lipoid adrenal hyperlasia; Korean; Mutation; Steroidogenic acute regulatory protein

Indexed keywords

AMINO ACID; GLUTAMINE; REGULATOR PROTEIN; STEROID; STEROIDOGENIC ACUTE REGULATORY PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; FEMALE GENITAL SYSTEM; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; HYPOVOLEMIC SHOCK; KOREA; MALE; NEWBORN; PHENOTYPE; PROTEIN DEFECT; SALT LOSING NEPHRITIS; STEROIDOGENESIS;

EID: 0031722170     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1998.11.6.707     Document Type: Article

References (11)

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