(Q78015875)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

10 December 2019

main subject

1 reference

A V Anstey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

C R Taylor

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Academy of Dermatology

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

121-123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

Photosensitivity associated with the Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0190-9622%2899%2970420-2

7 January 2021

10.1016/S0190-9622(99)70420-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10411425%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference