(Q40942008)

25 September 2017

title

Biochemical variants of Smith-Lemli-Opitz syndrome (English)

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25 September 2017

Neklason DW

1

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25 September 2017

Andrews KM

series ordinal

2

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25 September 2017

Kelley RI

series ordinal

3

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25 September 2017

Metherall JE

series ordinal

4

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25 September 2017

publication date

1 August 1999

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American Journal of Medical Genetics Part A

25 September 2017

published in

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25 September 2017

volume

85

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25 September 2017

issue

5

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25 September 2017

page(s)

517-523

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Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

25 September 2017

cites work

1 reference

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Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome

21 January 2018

1 reference

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Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

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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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

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Efflux of newly synthesized cholesterol and biosynthetic sterol intermediates from cells. Dependence on acceptor type and on enrichment of cells with cholesterol

21 January 2018

1 reference

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RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

21 January 2018

1 reference

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Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

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Molecular cloning and expression of the human delta7-sterol reductase

21 January 2018

1 reference

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RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

21 January 2018

1 reference

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Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

21 January 2018

1 reference

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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

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Progesterone inhibits cholesterol biosynthesis in cultured cells. Accumulation of cholesterol precursors

21 January 2018

1 reference

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Role of multidrug resistance P-glycoproteins in cholesterol biosynthesis

21 January 2018

1 reference

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Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C517%3A%3AAID-AJMG18%3E3.0.CO%3B2-1

Cholesterol defect in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990827%2985%3A5%3C517%3A%3AAID-AJMG18%3E3.0.CO%3B2-1

10.1002/(SICI)1096-8628(19990827)85:5<517::AID-AJMG18>3.0.CO;2-1

21 January 2018

Identifiers

DOI

1 reference

25 September 2017

1 reference