Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata (Q74650998)

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12 November 2019

title

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata (English)

1 reference

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chondrodysplasia punctata

12 November 2019

main subject

1 reference

R I Kelley

1

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12 November 2019

W G Wilcox

2

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12 November 2019

M Smith

3

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12 November 2019

L E Kratz

4

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12 November 2019

A Moser

5

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12 November 2019

D S Rimoin

6

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12 November 2019

publication date

1 March 1999

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American Journal of Medical Genetics Part A

12 November 2019

published in

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12 November 2019

volume

83

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12 November 2019

issue

3

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12 November 2019

page(s)

213-219

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Solubilization and partial purification of a microsomal 3-ketosteroid reductase of cholesterol biosynthesis

12 November 2019

cites work

1 reference

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Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

21 January 2018

1 reference

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Clinical phenotype of desmosterolosis

21 January 2018

1 reference

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A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

1 reference

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Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants

21 January 2018

1 reference

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X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

21 January 2018

1 reference

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Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

21 January 2018

1 reference

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Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata

21 January 2018

1 reference

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Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

21 January 2018

1 reference

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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 January 2018

1 reference

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Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

21 January 2018

1 reference

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Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

21 January 2018

1 reference

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Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature

21 January 2018

1 reference

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Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast

21 January 2018

1 reference

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Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

21 January 2018

1 reference

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The reversibility of the delta8-cholestenol-delta7-cholestenol isomerase reaction in cholesterol biosynthesis

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C

21 January 2018

Identifiers

DOI

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12 November 2019

1 reference