(Q73867046)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

1

1 reference

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7 November 2019

author name string

C Aslanidis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

R Kain

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Exner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Helbich

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

C Dejaco

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G Schmitz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

P Ferenci

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 October 1997

1 reference

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7 November 2019

published in

Journal of Hepatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

4

1 reference

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7 November 2019

page(s)

744-750

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Pulmonary vascular obstruction associated with cholesteryl ester storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Cholesterol Ester Storage Disease and Mesenteric Lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Assignment ofLIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Genomic organization of the human lysosomal acid lipase gene (LIPA).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Lovastatin therapy for cholesterol ester storage disease in two sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Formation and involution of Mallory bodies ("alcoholic hyalin") in murine and human liver revealed by immunofluorescence microscopy with antibodies to prekeratin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Measurement of liver and spleen volume by computed tomography. Assessment of reproducibility and changes found following a selective distal splenorenal shunt

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

Use of simvastatin plus cholestyramine in the treatment of lysosomal acid lipase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2897%2980092-X

7 January 2021

10.1016/S0168-8278(97)80092-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9365051%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference