(Q42548098)

2 November 2017

title

Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome (English)

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2 November 2017

A van Rooij

1

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2 November 2017

A A Nijenhuis

series ordinal

2

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2 November 2017

F A Wijburg

series ordinal

3

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2 November 2017

R B Schutgens

series ordinal

4

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2 November 2017

publication date

1 August 1997

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Journal of Inherited Metabolic Disease

2 November 2017

published in

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2 November 2017

volume

20

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2 November 2017

issue

4

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2 November 2017

page(s)

578-580

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Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

2 November 2017

cites work

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12 December 2020

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient

1 reference

12 December 2020

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

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12 December 2020

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1023/A:1005355026186

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Dimensions Publication ID

2 November 2017

1015767920

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