(Q36923822)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

case report

0 references

title

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

3

1 reference

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14 January 2020

Ann Saada

8

1 reference

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14 January 2020

Ophry Pines

12

1 reference

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14 January 2020

author name string

Avraham Zeharia

1

1 reference

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14 January 2020

Avraham Shaag

2

1 reference

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14 January 2020

Tareq Hindi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Pascale de Lonlay

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Gilli Erez

6

1 reference

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14 January 2020

Laurence Hubert

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Yves de Keyzer

9

1 reference

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14 January 2020

Gideon Eshel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Frédéric M Vaz

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Orly Elpeleg

13

1 reference

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14 January 2020

language of work or name

English

0 references

publication date

25 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 January 2020

published in

1 reference

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14 January 2020

volume

83

1 reference

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14 January 2020

page(s)

489-494

1 reference

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14 January 2020

issue

4

1 reference

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SLCO1B1 variants and statin-induced myopathy--a genomewide study

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

The cellular functions of the yeast lipin homolog PAH1p are dependent on its phosphatidate phosphatase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Genetic risk factors associated with lipid-lowering drug-induced myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

The Saccharomyces cerevisiae Lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Lipin, a lipodystrophy and obesity gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Statin-fibrate combination therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Glycerophospholipids in brain: their metabolism, incorporation into membranes, functions, and involvement in neurological disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

HMG-CoA reductase inhibitors and myotoxicity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

The single translation product of the FUM1 gene (fumarase) is processed in mitochondria before being distributed between the cytosol and mitochondria in Saccharomyces cerevisiae

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

The fatty liver dystrophy (fld) mutation. A new mutant mouse with a developmental abnormality in triglyceride metabolism and associated tissue-specific defects in lipoprotein lipase and hepatic lipase activities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

The metabolism of glycerophospholipid and its regulation in monocytes and macrophages

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Recurrent childhood myoglobinuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Metabolic causes of myoglobinuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Characterization of the peripheral neuropathy in neonatal and adult mice that are homozygous for the fatty liver dystrophy (fld) mutation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2561931

Metabolism of glycerolipides; a comparison of lecithin and triglyceride synthesis

27 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18817903

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.09.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18817903%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference