(Q71611453)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

D Matern

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Seydewitz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Niederhoff

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Wiebusch

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M Brandis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 August 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

19 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

660-664

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01957148

19 October 2019

exact match

0 references

cites work

A common variant in the gene for lipoprotein lipase (Asp9-->Asn). Functional implications and prevalence in normal and hyperlipidemic subjects.

1 reference

12 December 2020

A heterozygous mutation (the codon for Ser447→ a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia

1 reference

12 December 2020

Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region

1 reference

12 December 2020

Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA.

1 reference

12 December 2020

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians

1 reference

12 December 2020

[Chylomicronemia syndrome--pathophysiology, clinical aspects and therapy]

1 reference

12 December 2020

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

1 reference

12 December 2020

Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T)

1 reference

12 December 2020

Improved phenotyping of apolipoprotein E: application to population frequency distribution.

1 reference

12 December 2020

Endotoxin-induced hypertriglyceridemia is mediated by suppression of lipoprotein lipase at a post-transcriptional level

1 reference

12 December 2020

Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.

1 reference

12 December 2020

Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families

1 reference

12 December 2020

Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity

1 reference

12 December 2020

Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases

1 reference

12 December 2020

Genetic forms of dyslipidemia in children

1 reference

12 December 2020

Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent

1 reference

12 December 2020

Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family

1 reference

12 December 2020

Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec

1 reference

12 December 2020

Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion

1 reference

12 December 2020

Measurement of lipoprotein lipase and hepatic triglyceride lipase in human postheparin plasma

1 reference

12 December 2020

Regulation of the synthesis, processing and translocation of lipoprotein lipase

1 reference

12 December 2020

Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase

1 reference

12 December 2020

Phenotypic variation of mutations in the human lipoprotein-lipase gene

1 reference

12 December 2020

Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01957148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8839720%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference