Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome (Q46387597)

21 December 2017

title

Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome (English)

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21 December 2017

author

Robert D. Steiner

2

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author name string

Don S Lin

1

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Donna P Flavell

3

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William E Connor

4

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language of work or name

English

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publication date

17 March 2005

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21 December 2017

published in

Pediatric Research

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volume

57

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issue

6

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page(s)

765-770

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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

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Abnormal bile acids in the Smith-Lemli-Opitz syndrome

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Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

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Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

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

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

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Correction: A unique ectonucleotide pyrophosphohydrolase associated with porcine chondrocyte-derived vesicles

21 January 2018

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

21 January 2018

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

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

21 January 2018

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The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

21 January 2018

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Cholesterol modification of hedgehog signaling proteins in animal development

21 January 2018

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Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

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Teratogen-mediated inhibition of target tissue response to Shh signaling

21 January 2018

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Relationship between abnormal cholesterol synthesis and retarded learning in rats

21 January 2018

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Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

21 January 2018

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Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

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Measurement of intestinal cholesterol absorption by plasma and fecal dual-isotope ratio, mass balance, and lymph fistula methods in the mouse: an analysis of direct versus indirect methodologies

21 January 2018

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The intestinal absorption of dietary cholesterol by hypercholesterolemic (type II) and normocholesterolemic humans

21 January 2018

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Absorption and metabolism of dietary cholesterol

21 January 2018

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Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

21 January 2018

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High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1

21 January 2018

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Biochemistry. An absorbing study of cholesterol

21 January 2018

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Studies on the influence of dietary cholesterol on cholesterol metabolism in the isotopic steady state in man

21 January 2018

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10.1203/01.PDR.0000157723.98422.B5

21 January 2018

Identifiers

DOI

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21 December 2017

Dimensions Publication ID

1032732683

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21 December 2017