Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers (Q49566406)

From Wikidata

Jump to navigation Jump to search

scientific article published on 6 October 2017

edit

Language	Label	Description	Also known as
English	Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers	scientific article published on 6 October 2017

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

title

Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

author name string

I Castro-Ferreira

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Rute Carmo

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Sérgio Estrela Silva

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Otília Corrêa

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Susana Fernandes

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Susana Sampaio

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Rodrigues-Pereira Pedro

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

Augusta Praça

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

João Paulo Oliveira

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

publication date

6 October 2017

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

published in

Journal of Inherited Metabolic Disorders Reports

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

cites work

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement

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=6122021

retrieved

5 October 2018

Lipoprotein X Causes Renal Disease in LCAT Deficiency

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=6122021

retrieved

5 October 2018

Recurrent glomerulopathy in a renal allograft due to lecithin cholesterol acyltransferase deficiency.

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=6122021

retrieved

5 October 2018

Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study

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=6122021

retrieved

5 October 2018

Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency

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=6122021

retrieved

5 October 2018

Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.

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=6122021

retrieved

5 October 2018

Nephrotic syndrome caused by immune-mediated acquired LCAT deficiency

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=6122021

retrieved

5 October 2018

Lecithin:cholesterol acyltransferase: old friend or foe in atherosclerosis?

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=6122021

retrieved

5 October 2018

Effect of recombinant human lecithin cholesterol acyltransferase infusion on lipoprotein metabolism in 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=6122021

retrieved

5 October 2018

In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency

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=6122021

retrieved

5 October 2018

Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans

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=6122021

retrieved

5 October 2018

Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy.

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=6122021

retrieved

5 October 2018

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

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=6122021

retrieved

5 October 2018

Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B

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=6122021

retrieved

5 October 2018

Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterol acyltransferase-deficient 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=6122021

retrieved

5 October 2018

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes

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=6122021

retrieved

5 October 2018

Acquired hypolipoproteinemia

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=6122021

retrieved

5 October 2018

The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families

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=6122021

retrieved

5 October 2018

The Case ∣ The eyes have it!

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2F8904_2017_57

retrieved

21 January 2018

Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence of lecithin cholesterol acyltransferase deficiency after kidney transplantation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal Failure in Familial Lecithin-Cholesterol Acyltransferase Deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of two patients with severe LCAT deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28983876

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/8904_2017_57

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

PMC publication ID

6122021

0 references

PubMed publication ID

28983876

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28983876

retrieved

21 February 2018

reference URL

http://europepmc.org/abstract/MED/28983876

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q49566406&oldid=2226435524"