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Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
16956 Ensembl ENSG00000175445 ENSMUSG00000015568 UniProt P06858 P11152 RefSeq (mRNA) NM_000237 NM_008509 RefSeq (protein) NP_000228 NP_032535 Location (UCSC) Chr 8: 19.9 – 19.97 Mb Chr 8: 69.33 – 69.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Lipoprotein lipase Identifiers EC no. 3.1.1.34 CAS no. 9004-02-8 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme ...
Alipogene tiparvovec, sold under the brand name Glybera, is a gene therapy treatment designed to reverse lipoprotein lipase deficiency (LPLD), a rare recessive disorder, due to mutations in LPL, which can cause severe pancreatitis. [1]
Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from the digestive tract to the liver; Familial apoprotein CII deficiency (type Ib), [17] [18] a condition caused by a lack of lipoprotein lipase ...
The UpToDate system is an evidence-based clinical resource. It includes a collection of medical and patient information, access to Lexicomp drug monographs and drug-to-drug interactions, and a number of medical calculators. UpToDate is written by over 7,100 physician authors, editors, and peer reviewers. It is available both via the Internet ...
Hepatic lipase deficiency is a rare, autosomal recessive disorder that results in elevated high-density lipoprotein (HDL) cholesterol due to a mutation in the hepatic lipase gene. Clinical features are not well understood and there are no characteristic xanthomas .
344 11813 Ensembl ENSG00000234906 ENSMUSG00000002992 UniProt P02655 Q05020 RefSeq (mRNA) NM_000483 NM_001277944 NM_001309795 RefSeq (protein) NP_000474 NP_000474.2 NP_001296728 NP_001264873 NP_001296724 Location (UCSC) Chr 19: 44.95 – 44.95 Mb Chr 7: 19.41 – 19.41 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein family Apo-CII nmr structure of human apolipoprotein c-ii in ...
Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child.