医中誌リンクサービス


文献リスト

1)Mehta A, Clarke JT, Giugliani R, et al; FOS investigators. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet. 2009; 46: 548-52
PubMed CrossRef
医中誌リンクサービス
2)衛藤義勝,監修.Fabry病診断治療ハンドブック.東京: E・N MEDIX社; 2015
医中誌リンクサービス
3)Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, et al. X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet. 1996; 33: 682-8
PubMed CrossRef
医中誌リンクサービス
4)Germain DP, Echevarria L. Tissue-specific X chromosome inactivation studies as a decision-making criteria for enzyme replacement therapy in female heterozygotes for Fabry disease. Mol Genet Metab. 2014; 111: S45
医中誌リンクサービス
5)Kolodny E, Fellgiebel A, Hilz MJ, et al. Cerebrovascular Involvement in Fabry Disease: Current Status of Knowledge. Stroke. 2015; 46: 302-13
PubMed CrossRef
医中誌リンクサービス
6)Varga Z, Gelpi E, Rohonyi B, et al. Megadolichobasilar anomaly with thrombosis in a family with Fabryʼs disease and a novel mutation in the alpha-galactosidase A gene. Brain. 2005; 128: 2078-83
PubMed CrossRef
医中誌リンクサービス
7)Rombach SM, Smid BE, Linthorst GE, et al. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis. 2014; 37: 341-52
PubMed CrossRef
医中誌リンクサービス
8)Politei J, Schenone AB, Burlina A, et al. Vertebrobasilar dolichoectasia in Fabry Disease: the earliest marker of neurovascular involvement? J Inborn Errors Metab Screening. 2014; 2: 232
医中誌リンクサービス
9)Fellgiebel A, Keller I, Martus P, et al. Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients. Cerebrovasc Dis. 2011; 31: 294-9
PubMed CrossRef
医中誌リンクサービス
10)Fellgiebel A, Keller I, Marin D, et al. Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology. 2009; 72: 63-8
PubMed CrossRef
医中誌リンクサービス
11)Takanashi J, Barkovich AJ, Dillon WP, et al. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 2003; 24: 916-21
PubMed
医中誌リンクサービス
12)Moore DF, Ye F, Schiffmann R, et al. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol. 2003; 24: 1096-101
PubMed
医中誌リンクサービス
13)Burlina AP, Manara R, Caillaud C, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 2008; 255: 738-44
PubMed CrossRef
医中誌リンクサービス
14)Uçeyler N, Homola GA, Guerrero González H, et al. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease. PLoS One. 2014; 9: e87054
CrossRef
医中誌リンクサービス
15)Tanislav C, Kaps M, Rolfs A, et al. Frequency of Fabry disease in patients with small-fibre neuro-pathy of unknown aetiology: a pilot study. Eur J Neurol. 2011; 18: 631-6
PubMed CrossRef
医中誌リンクサービス
16)Sestito S, Ceravolo F, Concolino D. Anderson-Fabry disease in children. Curr Pharm Des. 2013; 19: 6037-45
PubMed CrossRef
医中誌リンクサービス
17)Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology. 2004; 62: 1066-72
PubMed CrossRef
医中誌リンクサービス
18)Sims K, Politei J, Banikazemi M, et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009; 40: 788-94
PubMed CrossRef
医中誌リンクサービス
19)Baptista MV, Ferreira S, Pinho-E-Melo, et al; PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients. Stroke. 2010; 41: 431-6
PubMed CrossRef
医中誌リンクサービス
20)Nakamura K, Sekijima Y, Nakamura K, et al. Cerebral hemorrhage in Fabryʼs disease. J Hum Genet. 2010; 55: 259-61
PubMed CrossRef
医中誌リンクサービス
21)Chang YH, Hwang SK. A case of cerebral aneurysmal subarachnoid hemorrhage in Fabryʼs disease. J Korean Neurosurg Soc. 2013; 53: 187-9
PubMed
医中誌リンクサービス
22)Reisin RC, Romero C, Marchesoni C, et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci. 2011; 305: 41-4
PubMed CrossRef
医中誌リンクサービス
23)Brouns R, Thijs V, Eyskens F, et al; BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke. 2010; 41: 863-8
PubMed CrossRef
医中誌リンクサービス
24)Rombach SM, Twickler TB, Aerts JM, et al. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab. 2010; 99: 99-108
PubMed CrossRef
医中誌リンクサービス
25)Moore DF, Kaneski CR, Askari H, et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci. 2007; 257: 258-63
PubMed CrossRef
医中誌リンクサービス
26)Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 2008; 79: 1249-54
PubMed CrossRef
医中誌リンクサービス
27)Go AS, Mozaffarian D, Roger VL, et al. American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics-2013 update: a report from the American Heart Association. Circulation. 2013; 127: e6-245
PubMed CrossRef
医中誌リンクサービス
28)Ginsberg L, Mehta A, Beck M, et al. Nervous system manifestations of Fabry disease: data from FOS - the Fabry Outcome Survey. In: Fabry Disease: Perspectives From 5 Years of FOS. Oxford: Oxford PharmaGenesis 2006
医中誌リンクサービス
29)Grewal RP. Stroke in Fabryʼs disease. J Neurol. 1994; 241: 153-6
PubMed
医中誌リンクサービス
30)Moore DF, Scott LT, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation. 2001; 104: 1506-12
PubMed CrossRef
医中誌リンクサービス
31)Gupta S, Ries M, Kotsopoulos S, et al. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore). 2005; 84: 261-8
PubMed CrossRef
医中誌リンクサービス
32)Vedder AC, Linthorst GE, van Breemen MJ, et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis. 2007; 30: 68-78
PubMed CrossRef
医中誌リンクサービス
33)Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005; 366: 1794-6
PubMed CrossRef
医中誌リンクサービス
34)Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010; 41: 78-81
PubMed CrossRef
医中誌リンクサービス
35)Rolfs A, Fazekas F, Grittner U, et al; Stroke in Young Fabry Patients (SIFAP) Investigators. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke. 2013; 44: 340-9
PubMed CrossRef
医中誌リンクサービス
36)Sarikaya H, Yilmaz M, Michael N, et al. Zurich Fabry study-prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA. Eur J Neurol. 2012; 19: 1421-6
PubMed CrossRef
医中誌リンクサービス
37)Dubuc V, Moore DF, Gioia LC, et al. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke. J Stroke Cerebrovasc Dis. 2013; 22: 1288-92
PubMed CrossRef
医中誌リンクサービス
38)Shi Q, Chen J, Pongmoragot J, et al. Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis. J Stroke Cerebrovasc. 2014; 23: 985-92
医中誌リンクサービス
39)Lidove O, Joly D, Touzé E. Letter regarding Brouns et al, Baptista et al, and Wozniak et al. Stroke. 2011; 42: e4-5
PubMed CrossRef
医中誌リンクサービス
40)Linthorst GE, Ginsberg L. Prevalence of Fabry disease in TIA/stroke cohorts. What defines Fabry disease? Eur J Neurol. 2012; 19: 1383-4
PubMed CrossRef
医中誌リンクサービス
41)Takao M, Mori T, Orikasa H, et al. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Virchows Arch. 2007; 451: 721-7
PubMed CrossRef
医中誌リンクサービス
42)Warnock DG, Ortiz A, Mauer M, et al. Fabry Registry. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012; 27: 1042-9
PubMed CrossRef
医中誌リンクサービス
43)von Sarnowski, Putaala J, Grittner U, et al. Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study. Stroke. 2013; 44: 119-25
PubMed CrossRef
医中誌リンクサービス
44)Barris-Oliveira AC, Müller KB, Turaça LT, et al. Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients. Clin Biochem. 2012; 45: 1459-62
PubMed CrossRef
医中誌リンクサービス
45)Altarescu G, Haim S, Elstein D. Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. Biomarkers. 2013; 18: 595-600
PubMed CrossRef
医中誌リンクサービス
46)Kaneski CR, Moore DF, Ries M, et al. Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease. Neurology. 2006; 67: 2045-7
PubMed CrossRef
医中誌リンクサービス
47)Kikumoto Y, Kai Y, Morinaga H, et al. Fabry disease exhibiting recurrent stroke and persistent inflammation. Intern Med. 2010; 49: 2247-52
PubMed CrossRef J-Stage
医中誌リンクサービス
48)Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl. 2002; 91: 57-61
PubMed
医中誌リンクサービス
49)Fedi S, Gensini F, Gori AM, et al. Homocysteine and tissue factor pathway inhibitor levels in patients with Fabryʼs disease. J Thromb Haemost. 2005; 3: 2117-9 d
PubMed CrossRef
医中誌リンクサービス
50)Niemann M, Weidemann F. A dangerous combination: Fabry disease and factor V Leiden. Intern Med J. 2012; 42: 1270-1
PubMed CrossRef
医中誌リンクサービス
51)Tchan M, Sillence D. Fabry disease and Factor V Leiden: a potent vascular risk combination. Intern Med J. 2011; 41: 422-6
PubMed CrossRef
医中誌リンクサービス
52)Gessoni G, Valverde S, Canistro R, et al. Factor V Leiden in Chioggia: a prevalence study in patients with venous thrombosis, their blood relatives and the general population. Blood Transfus. 2010; 8: 193-5
PubMed
医中誌リンクサービス
53)Lenders M, Karabul N, Duning T, et al. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology. 2015; 84: 1009-16
PubMed CrossRef
医中誌リンクサービス
54)Ro A, Hara M, Takada A. The factor V Leiden mutation and the prothrombin G20210A mutation was not found in Japanese patients with pulmonary thromboembolism. Thromb Haemost. 1999; 82: 1769
PubMed
医中誌リンクサービス
55)Vedder AC, Biró E, Aerts JM, et al. Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment. Nephrol Dial Transplant. 2009; 24: 3074-81
PubMed CrossRef
医中誌リンクサービス
56)Igarashi T, Sakuraba H, Suzuki Y. Activation of platelet function in Fabryʼs disease. Am J Hematol. 1986; 22: 63-7
PubMed CrossRef
医中誌リンクサービス
57)Tosoni A, Nebuloni M, Zerbi P, et al. Ultrastructural study of renal involvement in two females with Anderson-Fabry disease. Ultrastruct Pathol. 2005; 29: 203-7
PubMed CrossRef
医中誌リンクサービス
58)Shen JS, Meng XL, Moore DF, et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab. 2008; 95: 163-8
PubMed CrossRef
医中誌リンクサービス
59)DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000; 47: 229-33
PubMed CrossRef
医中誌リンクサービス
60)Shu L, Shayman JA. Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice. J Biol Chem. 2007; 282: 20960-7
PubMed CrossRef
医中誌リンクサービス
61)Park S, Kim JA, Joo KY, et al. Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease. Cardiovasc Res. 2011; 89: 290-9
PubMed CrossRef
医中誌リンクサービス
62)Barbey F, Brakch N, Linhart A, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol. 2006; 26: 839-44
PubMed CrossRef
医中誌リンクサービス
63)Brakch N, Dormond O, Bekri S, et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J. 2010; 31: 67-76
PubMed CrossRef
医中誌リンクサービス
64)Barbey F, Qanadli SD, Juli C, et al. Aortic remodelling in Fabry disease. Eur Heart J. 2010; 31: 347-53
PubMed CrossRef
医中誌リンクサービス
65)Rombach SM, van den Bogaard B, de Groot E, et al. Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine. Hypertension. 2012; 60: 998-1005
PubMed CrossRef
医中誌リンクサービス
66)Kalliokoski RJ, Kalliokoski KK, Penttinen M, et al. Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis. 2006; 29: 660-6
PubMed CrossRef
医中誌リンクサービス
67)Sho E, Sho M, Singh TM, et al. Arterial enlargement in response to high flow requires early expression of matrix metalloproteinases to degrade extracellular matrix. Exp Mol Pathol. 2002; 73: 142-53
PubMed CrossRef
医中誌リンクサービス
68)Tronc F, Mallat Z, Lehoux S, et al. Role of matrix metalloproteinases in blood flow-induced arterial enlargement: interaction with NO. Arterioscler Thromb Vasc Biol. 2000; 20: E120-6
PubMed CrossRef
医中誌リンクサービス
69)Fischer J, Whitney D. Attention gates visual coding in the human pulvinar. Nat Commun. 2012; 3: 1051
PubMed
医中誌リンクサービス
70)Tomizawa Y, Okuzumi A, Shiotsuki H, et al. A Patient with the GLA p. E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions. Intern Med. 2015; 54: 2503-6
PubMed CrossRef J-Stage
医中誌リンクサービス
71)Burlina AP, Politei J, Cinque S, et al. The pulvinar sign in Fabry patients: the first report in female patients. J Neurol. 2012; 259: 1227-8
PubMed CrossRef
医中誌リンクサービス
72)Fazekas F, Enzinger C, Schmidt R, et al. Brain magnetic resonance imaging findings fail to suspect fabry disease in young patients with an acute cerebrovascular event. Stroke. 2015; 46: 1548-53
PubMed CrossRef
医中誌リンクサービス
73)Kaye EM, Kolodny EH, Logigian EL, et al. Nervous system involvement in Fabryʼs disease: clinicopathological and biochemical correlation. Ann Neurol. 1988; 23: 505-9
PubMed CrossRef
医中誌リンクサービス
74)deVeber GA, Schwarting GA, Kolodny EH, et al. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol. 1992; 31: 409-15
PubMed CrossRef
医中誌リンクサービス
75)Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology. 1998; 50: 1746-9
PubMed CrossRef
医中誌リンクサービス
76)Fellgiebel A, Müller MJ, Mazanek M, et al. White matter lesion severity in male and female patients with Fabry disease. Neurology. 2005; 65: 600-2
PubMed CrossRef
医中誌リンクサービス
77)Steinicke R, Gaertner B, Grittner U, et al. Kidney function and white matter disease in young stroke patients: analysis of the stroke in young Fabry patients study population. Stroke. 2012; 43: 2382-8
PubMed CrossRef
医中誌リンクサービス
78)Matute C, Domercq M, Pérez-Samartín A, et al. Protecting white matter from stroke injury. Stroke. 2013; 44: 1204-11
PubMed CrossRef
医中誌リンクサービス
79)Rost N, Metterville DR, Cloonan LK, et al. White matter hyperintensity volume assessment in patients with Fabry disease [abstract 198]. Mol Genet Metab. 2013; 108 Suppl: S80
医中誌リンクサービス
80)Hilz MJ, Kolodny EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol. 2004; 251: 564-70
PubMed CrossRef
医中誌リンクサービス
81)Uçeyler N, He L, Kahn AK, et al. Cerebral blood flow in patients with Fabry disease as measured by Doppler sonography is not different from that in healthy individuals and is unaffected by treatment. J Ultrasound Med. 2012; 31: 463-8
PubMed
医中誌リンクサービス
82)Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 2002; 33: 525-31
PubMed CrossRef
医中誌リンクサービス
83)Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging. 2001; 11: 303-7
PubMed CrossRef
医中誌リンクサービス
84)Itoh Y, Esaki T, Cook M, et al. Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease. J Neurochem. 2001; 79: 1217-24
PubMed
医中誌リンクサービス
85)Azevedo E, Mendes A, Seixas D, et al. Functional transcranial Doppler: presymptomatic changes in Fabry disease. Eur Neurol. 2012; 67: 331-7
PubMed CrossRef
医中誌リンクサービス
86)Fellgiebel A, Gartenschläger M, Wildberger K, et al. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis. 2014; 38: 448-56
PubMed CrossRef
医中誌リンクサービス
87)Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015; 52: 353-8
PubMed CrossRef
医中誌リンクサービス


NPO医学中央雑誌刊行会
https://www.jamas.or.jp/
info@jamas.or.jp