(Q33644452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Carlo M. Barbagallo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Antonio Carroccio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Patrizia Tarugi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Riccardo Vigneri

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Marja-Riitta Taskinen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maurizio Averna

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

10

Sebastiano Squatrito

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Angelo B Cefalù

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maria Luisa Arpi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Fen Yin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rossella Spina

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Hannele Hilden

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Miklós Péterfy

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

9 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

4584-4590

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

A quantitative assay measuring the function of lipase maturation factor 1

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

GPIHBP1, a GPI-anchored protein required for the lipolytic processing of triglyceride-rich lipoproteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Clinical practice. Hypertriglyceridemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Is there a role for fibrates in the management of dyslipidemia in the metabolic syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Hypertriglyceridemia: its etiology, effects and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

The nonsense-mediated decay RNA surveillance pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Angiopoietin-like protein 4 is a potent hyperlipidemia-inducing factor in mice and inhibitor of lipoprotein lipase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Maturation of lipoprotein lipase in the endoplasmic reticulum. Concurrent formation of functional dimers and inactive aggregates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

cld and lec23 are disparate mutations that affect maturation of lipoprotein lipase in the endoplasmic reticulum.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Naturally occurring mutations in mice affecting lipid transport and metabolism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Lipoprotein lipase in diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

An immunochemical method for the selective measurement of two triglyceride lipases in human postheparin plasma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

The cld mutation: narrowing the critical chromosomal region and selecting candidate genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2819827

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19820022

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19820022

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19820022

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2009-0594

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19820022%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

19820022

1 reference