(Q70994549)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

C L Maslen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

D Babcock

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

D R Illingworth

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

15 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

620-623

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency

15 October 2019

cites work

1 reference

12 December 2020

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

1 reference

12 December 2020

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

1 reference

12 December 2020

Cholesteryl ester hydrolase activity in mononuclear cells from patients with type II hypercholesterolemia

1 reference

12 December 2020

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02436008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598644%20AND%20SRC:MED&resulttype=core&format=json