(Q71870997)

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

21 October 2019

title

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

1 reference

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

Smith-Lemli-Opitz syndrome

21 October 2019

main subject

1 reference

G S Tint

1

1 reference

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

21 October 2019

G Salen

2

1 reference

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

21 October 2019

A K Batta

3

1 reference

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

21 October 2019

S Shefer

4

1 reference

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

21 October 2019

M Irons

5

1 reference

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

21 October 2019

E R Elias

6

1 reference

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21 October 2019

D N Abuelo

7

1 reference

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21 October 2019

V P Johnson

8

1 reference

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21 October 2019

M Lambert

9

1 reference

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21 October 2019

R Lutz

10

1 reference

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21 October 2019

language of work or name

English

0 references

publication date

1 July 1995

1 reference

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

The Journal of Pediatrics

21 October 2019

published in

1 reference

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

21 October 2019

volume

127

1 reference

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21 October 2019

page(s)

82-87

1 reference

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21 October 2019

issue

1

1 reference

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 October 2019

cites work

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

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

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

7 January 2021

1 reference

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

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

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

Cholesterol defect in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

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

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

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

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

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

7 January 2021

1 reference

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

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

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

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

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

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

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

10.1016/S0022-3476(95)70261-X

7 January 2021

Identifiers

DOI

1 reference

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

21 October 2019

1 reference