(Q41926203)

14 October 2017

title

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

1 reference

14 October 2017

Anderson AJ

1

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14 October 2017

Stephan MJ

series ordinal

2

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14 October 2017

Walker WO

series ordinal

3

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14 October 2017

Kelley RI

series ordinal

4

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14 October 2017

publication date

1 August 1998

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

volume

78

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14 October 2017

issue

5

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14 October 2017

page(s)

413-418

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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

14 October 2017

cites work

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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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Effects of infant nutrition on cholesterol synthesis rates

21 January 2018

1 reference

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A new face for an old syndrome

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%2819980806%2978%3A5%3C413%3A%3AAID-AJMG4%3E3.0.CO%3B2-M

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Clinical and molecular studies in a large Dutch family with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980806%2978%3A5%3C413%3A%3AAID-AJMG4%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19980806)78:5<413::AID-AJMG4>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

14 October 2017

1 reference