WordNet

any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions

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1. ライソゾーム膜蛋白質2欠損症（糖原病IIb型、ダノン病） lysosome associated membrane protein 2 deficiency glycogen storage disease iib danon disease
2. 肥大型心筋症の遺伝学 genetics of hypertrophic cardiomyopathy
3. ゴーシェ病：治療 gaucher disease treatment
4. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency
5. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis

Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.

Lorenzen JM, Dietrich B, Fiedler J, Jazbutyte V, Fleissner F, Karpinski N, Weidemann F, Wanner C, Asan E, Caprio M, Ertl G, Bauersachs J, Thum T.SourceHannover Medical School, Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.
Basic research in cardiology.Basic Res Cardiol.2013 Jan;108(1):311. doi: 10.1007/s00395-012-0311-3. Epub 2012 Nov 20.
Fabry disease is an X-chromosomal recessive deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal). This results in an accumulation of globotriaosylceramide (GL-3) in a variety of cells often with subsequent functional impairment. Here, the impact of Fabry disease on the biology of
PMID 23184391

High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.

Scruggs BA, Bowles AC, Zhang X, Semon JA, Kyzar EJ, Myers L, Kalueff AV, Bunnell BA.SourceCenter for Stem Cell Research and Regenerative Medicine, Tulane University School of Medicine, 1430 Tulane Avenue, SL-99, New Orleans, LA 70112, USA; Department of Pharmacology, Tulane University School of Medicine, 1430 Tulane Avenue, SL-83, New Orleans, LA 70112, USA.
Behavioural brain research.Behav Brain Res.2013 Jan 1;236(1):35-47. doi: 10.1016/j.bbr.2012.08.020. Epub 2012 Aug 20.
Globoid cell leukodystrophy (Krabbe's disease) is an autosomal recessive neurodegenerative disorder that results from the deficiency of galactosylceramidase, a lysosomal enzyme involved in active myelination. Due to the progressive, lethal nature of this disease and the limited treatment options ava
PMID 22951180