Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome (Q71870997)

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21 October 2019

title

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

1 reference

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Smith-Lemli-Opitz syndrome

21 October 2019

main subject

1 reference

G. S. Tint

1

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G. Salen

2

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A. K. Batta

3

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S. Shefer

4

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M. Irons

5

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E. R. Elias

6

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D. N. Abuelo

7

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V. P. Johnson

8

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M. Lambert

9

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R. Lutz

10

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language of work or name

English

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publication date

1 July 1995

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full work available at URL

21 October 2019

https://api.elsevier.com/content/article/PII:S002234769570261X?httpAccept=text/xml

1 reference

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https://api.elsevier.com/content/article/PII:S002234769570261X?httpAccept=text/plain

14 June 2024

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The Journal of Pediatrics

14 June 2024

published in

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21 October 2019

volume

127

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21 October 2019

issue

1

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21 October 2019

page(s)

82-87

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 October 2019

cites work

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings

7 January 2021

1 reference

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The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970261-X

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

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Cholesterol defect in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

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Unusual case of Smith-Lemli-Opitz syndrome "type II"

7 January 2021

1 reference

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7 January 2021

1 reference

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Evidence for the early reduction of the 24,25 double bond in the conversion of lanosterol to cholesterol in cerebrotendinous xanthomatosis

7 January 2021

1 reference

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Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols

7 January 2021

1 reference

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Investigation of the biogenetic reaction sequence of cholesterol in rat tissues, through inhibition with AY-9944

7 January 2021

1 reference

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Synthesis of Δ5,22-cholestadien-3β-ol from Δ5,7,22-cholestatrien-3β-ol by a liver enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970261-X

Smith-Lemli-Opitz Syndrome in a 23-Year-Old Man

7 January 2021

1 reference

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Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970261-X

Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro

7 January 2021

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Changes in brain hydrolytic enzyme activities in rats treated with cholesterol biosynthesis inhibitor, AY9944

7 January 2021

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Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia

7 January 2021

1 reference

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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

7 January 2021

1 reference

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Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970261-X

Smith-Lemli-Opitz syndrome: Review and report of two affected siblings

7 January 2021

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The Smith-Lemli-Opitz syndrome in an adult male

14 June 2024

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14 June 2024

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7608816%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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