(Q28363423)

English

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

scientific article

In more languages

edit

Statements

instance of

scholarly article

0 references

title

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C (English)

0 references

1 reference

Niemann-Pick disease, type C1

1 reference

J Imrie

1

0 references

J E Wraith

series ordinal

2

0 references

language of work or name

English

0 references

publication date

May 2001

0 references

published in

Archives of Disease in Childhood

0 references

volume

84

0 references

issue

5

0 references

page(s)

427-9

0 references

cites work

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

20 March 2017

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

20 March 2017

Niemann-Pick disease type C: nodular splenomegaly

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

29 September 2017

Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

29 September 2017

Clinical spectrum of Niemann-Pick disease type C.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

2 June 2018

Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

27 November 2018

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

27 November 2018

A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

27 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718763

retrieved

27 November 2018

An adult with a non-neuronopathic form of Niemann-Pick C disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11316691

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11316691

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

0 references

0 references

PubMed publication ID

11316691

0 references

ResearchGate publication ID

12018575

0 references

(Q28363423)

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

Statements

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)