(Q34208491)

English

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

31 July 2017

2 references

2 October 2020

28 January 2021

medical guideline

1 reference

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers (English)

1 reference

Europe PubMed Central

31 July 2017

lipid metabolism disorder

1 reference

2 October 2020

2 references

19 November 2019

28 January 2021

1 reference

2 October 2020

chylomicron retention disease

1 reference

based on heuristic

inferred from title

author name string

Noel Peretti

1

1 reference

Europe PubMed Central

31 July 2017

Agnès Sassolas

2

1 reference

Europe PubMed Central

31 July 2017

Claude C Roy

3

1 reference

Europe PubMed Central

31 July 2017

Colette Deslandres

4

1 reference

Europe PubMed Central

31 July 2017

Mathilde Charcosset

5

1 reference

Europe PubMed Central

31 July 2017

Justine Castagnetti

6

1 reference

Europe PubMed Central

31 July 2017

Laurence Pugnet-Chardon

7

1 reference

Europe PubMed Central

31 July 2017

Philippe Moulin

8

1 reference

Europe PubMed Central

31 July 2017

Sylvie Labarge

9

1 reference

Europe PubMed Central

31 July 2017

Lise Bouthillier

10

1 reference

Europe PubMed Central

31 July 2017

Alain Lachaux

11

1 reference

Europe PubMed Central

31 July 2017

Emile Levy

12

1 reference

Europe PubMed Central

31 July 2017

Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1

13

1 reference

Europe PubMed Central

31 July 2017

Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal

14

1 reference

Europe PubMed Central

31 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

29 September 2010

5 references

Europe PubMed Central

31 July 2017

24 March 2019

19 November 2019

2 October 2020

28 January 2021

Orphanet Journal of Rare Diseases

5 references

Europe PubMed Central

31 July 2017

24 March 2019

19 November 2019

2 October 2020

28 January 2021

5

1 reference

Europe PubMed Central

31 July 2017

24

1 reference

Europe PubMed Central

31 July 2017

copyright license

Creative Commons Attribution 2.0 Generic

4 references

Europe PubMed Central

24 March 2019

Europe PubMed Central

19 November 2019

Europe PubMed Central

2 October 2020

Europe PubMed Central

28 January 2021

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1750-1172-5-24

0 references

The mechanism of the formation and secretion of chylomicrons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

The biogenesis of chylomicrons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Vesicle-associated membrane protein 7 is expressed in intestinal ER

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

The intracellular transport of chylomicrons requires the small GTPase, Sar1b

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Three ways to make a vesicle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Genes for apolipoprotein B and microsomal triglyceride transfer protein are expressed in the heart: evidence that the heart has the capacity to synthesize and secrete lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

COPII-coated vesicle formation reconstituted with purified coat proteins and chemically defined liposomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Apo B100-containing lipoproteins are secreted by the heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Absorption, lipoprotein transport, and regulation of plasma concentrations of vitamin E in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

COPII: a membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Studies on lipoprotein metabolism in a family with jejunal chylomicron retention.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Plasma cholesterol and triglyceride distributions in 13,665 children and adolescents: the Prevalence Study of the Lipid Research Clinics Program.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Vitamin E and neurologic deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

5 July 2018

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Bioavailability of oral vitamin E formulations in adult volunteers and children with chronic cholestasis or cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Chylomicron retention disease: a long term study of two cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

VLDL exits from the endoplasmic reticulum in a specialized vesicle, the VLDL transport vesicle, in rat primary hepatocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Alpha tocopherol in CSF of subjects taking high-dose vitamin E in the DATATOP study. Parkinson Study Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Analysis of dual energy X-ray absorptiometry whole body results in children, adolescents and young adults.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956717

28 October 2018

A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual causes of steatorrhoea in infancy and childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bioavailability of a novel, water-soluble vitamin E formulation in malabsorbing patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pediatric dual-energy X-ray absorptiometry: technique, interpretation, and clinical applications

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anderson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Idiopathic disorder of intestinal fat transport (Anderson's disease). A further case]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A double-blind trial of vitamin E in angina pectoris

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neuropathy of abetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Action tremor as a manifestation of chylomicron retention disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Anderson's disease. Clinical and morphologic study of 7 cases]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anderson's disease: no linkage to the apo B locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family

1 reference

https://pubmed.ncbi.nlm.nih.gov/20920215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-5-24

1 reference

Europe PubMed Central

31 July 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

ResearchGate publication ID

0 references

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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34208491&oldid=1983837731"