Hypobetalipoproteinemias. Medical search. Web

OBJECTIVE: In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance.. APPROACH AND RESULTS: The proband was a 25-year-old female with low plasma cholesterol and hepatic steatosis. Low plasma levels of total cholesterol and fatty liver were observed in 10 more family members; 1 member was affected by liver cirrhosis, and 4 more subjects died of either hepatocarcinoma or carcinoma on cirrhosis. To identify the causal mutation in this family, we performed exome sequencing in 2 participants with hypocholesterolemia and fatty liver. Approximately 22 400 single nucleotide variants were identified in each sample. After variant filtering, 300 novel shared variants remained. A nonsense variant, p.K2240X, attributable to an A,T mutation in exon 26 ...

https://www.broadinstitute.org/publications/broad5047

... "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms. All relevant ...

https://pesquisa.bvsalud.org/portal/?lang=pt&q=au:Wang,+J+S

Hypobetalipoproteinemias , Acute Chest Syndrome , Stargardt Disease , Hashimoto Thyroiditis , Multiple System Atrophy , ...

https://www.silexon.tech/bio/d_164_Central%2Bpain%2Bsyndrome

Familial Hypobetalipoproteinemia use Hypobetalipoproteinemias Familial Hypokalemia Hypomagnesemia use Gitelman Syndrome ...

https://decs2017.bvsalud.org/I/DeCS2017_Alfab-F.htm

Hypobetalipoproteinemias[MAJR]) AND (familial hypobetalipoproteinemia[TIAB]) AND english[la] AND human[mh] AND last 1800 days ... Hypobetalipoproteinemias[MAJR]) AND (familial hypobetalipoproteinemia[TIAB]) AND english[la] AND human[mh] AND last 1800 days ...

https://pubmed.ncbi.nlm.nih.gov/?term=%28Hypobetalipoproteinemias%5BMAJR%5D%29+AND+%28familial+hypobetalipoproteinemia%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D

C16 - Congenital, Hereditary, and Neonatal Diseases and Abnormalities ...

https://decs.bvs.br/I/rep_i2007.htm

Hypobetalipoproteinemias / drug therapy* Actions. * Search in PubMed * Search in MeSH * Add to Search ...

https://www.ncbi.nlm.nih.gov/pubmed/1568667

Hypobetalipoproteinemias 5 0 Vascular Diseases 5 0 Calcinosis 5 1 Thrombosis 5 1 ...

https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=APOB&geneID=338&typeSubmit=GO&check=y&typeOption=gene&which=2&pubOrderType=pubD

The betalipoprotein disorders of abetalipoproteinemia and the hypobetalipoproteinemias cause a malabsorption of vitamins, ...

https://emedicine.medscape.com/article/1150817-treatment

Hypobetalipoproteinemias Preferred Term Term UI T646364. Date07/20/2005. LexicalTag NON. ThesaurusID NLM (2007). ... Hypobetalipoproteinemias [C18.452.584.500.875.440] * Abetalipoproteinemia [C18.452.584.500.875.440.500] * ... Hypobetalipoproteinemias Preferred Concept UI. M0010890. Scope Note. Conditions with abnormally low levels of BETA-LIPOPROTEINS ... Hypobetalipoproteinemias. Tree Number(s). C16.320.565.398.500.440. C18.452.584.500.875.440. C18.452.584.563.500.440. C18.452. ...

https://meshb-prev.nlm.nih.gov/record/ui?ui=D006995

Hypobetalipoproteinemias Preferred Term Term UI T646364. Date07/20/2005. LexicalTag NON. ThesaurusID NLM (2007). ... Hypobetalipoproteinemias [C18.452.584.500.875.440] * Abetalipoproteinemia [C18.452.584.500.875.440.500] * ... Hypobetalipoproteinemias Preferred Concept UI. M0010890. Scope Note. Conditions with abnormally low levels of BETA-LIPOPROTEINS ... Hypobetalipoproteinemias. Tree Number(s). C16.320.565.398.500.440. C18.452.584.500.875.440. C18.452.584.563.500.440. C18.452. ...

https://meshb.nlm.nih.gov/record/ui?ui=D006995

Hypobetalipoproteinemias [C16.320.565.398.500.440]. *Abetalipoproteinemia [C16.320.565.398.500.440.500]. *Nutritional and ...

https://profiles.musc.edu/display/83116/

Replaced for 2007 by Hypobetalipoproteinemias) Hypolipoproteinemia C16.320.565.556.500 C16.320.565.398.500 C18.452.339.875 ...

https://nlmpubs.nlm.nih.gov/projects/mesh/.newterms/mnchg2007.txt

... "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms. All relevant ...

https://pesquisa.bvsalud.org/portal/?lang=pt&q=au:Zhang,+Y+Q

Hypobetalipoproteinemias , Spinocerebellar Ataxia , Porphyria, Acute Intermittent , Acute Chest Syndrome , Medium-chain Acyl- ...

https://www.silexon.tech/bio/d_168_Stroke

Hypobetalipoproteinemias. 1. 3. Completed. Treatment. Radiation Induced Brachial Plexopathy. 1. 3. Not Yet Recruiting. ...

https://go.drugbank.com/drugs/DB11251

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

DeCS 2007 - Changed terms

HuGE Navigator|Genopedia|PHGKB

DeCS 2007 - Changed terms

Low LDL Cholesterol (Hypobetalipoproteinemia): Background, Pathophysiology, Beta apolipoproteins

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. |...

Pesquisa | Portal Regional da BVS

Central Pain Syndrome Drug Targets by BDE-Bio

DeCS 2017 - July 04, 2017 version

Hypobetalipoproteinemias[MAJR]) AND (familial hypobetalipoproteinemia[TIAB]) AND english[la] AND human[mh] AND 'last 1800 days'...

DeCS 2007 - Changed terms

Liver fibrosis in a patient with familial homozygous hypobetalipoproteinaemia: possible role of vitamin supplementation - PubMed

HuGE Navigator|Genopedia|PHGKB

Neuroacanthocytosis Treatment & Management: Medical Care, Surgical Care, Consultations

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Abetalipoproteinemia | Palmetto Profiles

MESH TREE NUMBER CHANGES - 2007 MeSH. September 14, 2006

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Stroke Drug Targets by BDE-Bio

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