Download PDF by Philip M. Parker: 21-Hydroxylase Deficiency - A Bibliography and Dictionary

By Philip M. Parker

ISBN-10: 0497112019

ISBN-13: 9780497112011

ISBN-10: 1429497335

ISBN-13: 9781429497336

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Source: Experientia. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=6607847&query_hl=4&itool=pubmed_docsum • Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway. Author(s): Fiet J, Gueux B, Raux-DeMay MC, Kuttenn F, Vexiau P, Brerault JL, Couillin P, Galons H, Villette JM, Julien R, et al. Source: The Journal of Clinical Endocrinology and Metabolism. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=2537337&query_hl=4&itool=pubmed_docsum • Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.

Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=14556829&query_hl=4&itool=pubmed_docsum • Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency. Author(s): Lee HH, Chang SF. Source: The Journal of Endocrinology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=11739005&query_hl=4&itool=pubmed_docsum • Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.

Author(s): Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH. Source: The Journal of Pediatrics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=11148508&query_hl=4&itool=pubmed_docsum • Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. Author(s): Rumsby G, Fielder AH, Hague WM, Honour JW. Source: Journal of Medical Genetics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=3263505&query_hl=4&itool=pubmed_docsum 32 21-Hydroxylase Deficiency • High frequency of nonclassical steroid 21-hydroxylase deficiency.

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21-Hydroxylase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker

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