(Q52223816)

27 April 2018

title

Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease (English)

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81695-6

19 August 2024

1 reference

Niemann-Pick disease, type C1

1 reference

D. A. Kelly

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7688422

19 August 2024

B. Portmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7688422

19 August 2024

A. P. Mowat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7688422

19 August 2024

S. Sherlock

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7688422

19 August 2024

B. D. Lake

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7688422

19 August 2024

language of work or name

English

0 references

publication date

1 August 1993

1 reference

27 April 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S0022347605816956?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81695-6

https://api.elsevier.com/content/article/PII:S0022347605816956?httpAccept=text/plain

19 August 2024

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81695-6

The Journal of Pediatrics

19 August 2024

published in

1 reference

27 April 2018

volume

123

1 reference

27 April 2018

issue

2

1 reference

27 April 2018

page(s)

242-247

1 reference

27 April 2018

A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Retinal abnormalities in ophthalmoplegic lipidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Diagnosis of Niemann-Pick disease type C on chorionic villus cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981695-6

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

7 January 2021

3

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81695-6

Alpha1-Antitrypsin Deficiency and Liver Disease in Children: Phenotypes, Manifestations, and Prognosis

19 August 2024

15

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(05)81695-6

19 August 2024

Identifiers

1 reference

27 April 2018

1 reference

27 April 2018