New type-4 D-bifunctional protein deficiency caused by compound heterozygous mutation of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4)

被引：0

作者：

McMillan, H. J.

Worthylake, T.

Geraghty, M.

Bulman, D.

Gottlieb, C.

Coupand, S.

Lawrence, S.

Boycott, K. M.

机构：

[1] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada

[2] Ottawa Eye Inst, Ottawa, ON, Canada

来源：

JOURNAL OF NEUROLOGY | 2012年 / 259卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：S43 / S43

页数：1

共 44 条

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[35] Safety and Efficacy of BI 187004, a Selective 11beta-Hydroxysteroid Dehydrogenase 1 (11b-HSD1) Inhibitor, after 4 Weeks of Treatment in Patients with Type 2 Diabetes
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[36] Assignment of HSD17B5 encoding type 5 17 beta-hydroxysteroid dehydrogenase to human chromosome bands 10p15 → p14 and mouse chromosome 13 region A2 by in situ hybridization:: Identification of a new syntenic relationship
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CYTOGENETICS AND CELL GENETICS, 1999, 84 (3-4): : 241 - 242
[37] VIRILIZING ADRENAL-TUMOR WITH BORDERLINE ELEVATION OF URINARY 17-KETOSTEROIDS AND HISTOCHEMICAL-DEMONSTRATION OF A DEFICIENCY IN THE DELTA-5-DELTA-4-ISOMERASE, 3BETA-HYDROXYSTEROID DEHYDROGENASE ENZYMATIC SYSTEM
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[39] GENETIC-LINKAGE MAPPING OF HSD3B1 AND HSD3B2 ENCODING HUMAN TYPE-I AND TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-5-DELTA-4-ISOMERASE CLOSE TO D1S514 AND THE CENTROMERIC D1Z5 LOCUS
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[40] The primate adrenal zona reticularis is defined by expression of cytochrome b5, 17α-hydroxylase/17,20-lyase cytochrome P450 (P450c17) and NADPH-cytochrome P450 reductase (reductase) but not 3β-hydroxysteroid dehydrogenase/Δ5-4 isomerase (3β-HSD)
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