WordNet

an impairment of health or a condition of abnormal functioning
(computer science) the process of storing information in a computer memory or on a magnetic tape or disk
the act of storing something
the commercial enterprise of storing goods and materials
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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1. 遺伝性疾患に伴う神経障害 neuropathies associated with hereditary disorders
2. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
3. 炎症性腸疾患における遺伝的要因 genetic factors in inflammatory bowel disease
4. 心疾患を伴うファブリー病の臨床的特徴、診断、およびマネージメント clinical features diagnosis and management of patients with fabry disease with cardiac disease
5. ファブリー病の臨床的特徴および診断 clinical features and diagnosis of fabry disease

Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.

Fuller M1, Mellett N2, Hein LK3, Brooks DA4, Meikle PJ2.
Molecular genetics and metabolism.Mol Genet Metab.2014 Nov 12. pii: S1096-7192(14)00350-3. doi: 10.1016/j.ymgme.2014.11.005. [Epub ahead of print]
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer sig
PMID 25468650

Possible role of transforming growth factor-β1 and vascular endothelial growth factor in Fabry disease nephropathy.

Lee MH1, Choi EN, Jeon YJ, Jung SC.
International journal of molecular medicine.Int J Mol Med.2012 Dec;30(6):1275-80. doi: 10.3892/ijmm.2012.1139. Epub 2012 Sep 24.
Fabry disease is a lysosomal storage disorder (LSD) caused by deficiency of α-galactosidase A (α-gal A), resulting in deposition of globotriaosylceramide (Gb3; also known as ceramide trihexoside) in the vascular endothelium of many organs. A gradual accumulatio
PMID 23007467

Determination of globotriaosylceramide in plasma and urine by mass spectrometry.

Krüger R1, Bruns K, Grünhage S, Rossmann H, Reinke J, Beck M, Lackner KJ.
Clinical chemistry and laboratory medicine : CCLM / FESCC.Clin Chem Lab Med.2010 Feb;48(2):189-98. doi: 10.1515/CCLM.2010.048.
BACKGROUND: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme repla
PMID 19958207

英: Fabry's disease, Fabry disease, Fabry syndrome
同: ファブリー病、Fabry病。アンダーソン・ファブリー病 Anderson-Fabry病; セラミドトリヘキソシド蓄積症 ceramide trihexoside storage disease、びまん性体部被角血管腫 angiokeratoma corporis diffusum
関: リソソーム病、スフィンゴ脂質蓄積症、難病

ファブリ病 : 約 2,420 件
ファブリー病 : 約 23,400 件

伴性劣性遺伝するスフィンゴ脂質蓄積症。
腎、血管系組織に脂質が蓄積し、臓器障害を起こす。
X染色体長腕Xq22.1にコードされたGLA遺伝子の変異により、ライソゾームの加水分解酵素の1つであるα-ガラクトシダーゼ(α-Gal)の活性低下や欠損により生じるX連鎖性遺伝性疾患である。
二次性心筋症の原因としては最多である。35～40歳以上の肥大型心筋症患者の0.5～1.0％にファブリー病が認められる。日本人の心肥大患者におけるファブリー病の頻度については1～3％の報告がある。