about
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kgEnzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseReceptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry diseaseEffects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) dataFabry's disease: specific inclusions found on electron microscopy of fibroblast culturesStudy on a family with anderson--Fabry's disease and associated familial spastic paraplegia.Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease.Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.Reflections on my career in analytical chemistry and biochemistry.Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.Fabry's disease. A brief review in connection with a Scandinavian survey.α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine traffickingFabry disease: recent advances in enzyme replacement therapy.Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?Anderson-Fabry dyslipidosisGut lesions in Fabry's disease without a rashRecommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.The genetic mismanagement of complex lipid metabolism.Variability of -galactosidase A and B in different tissues of manBiochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in EquidaeFabry's disease: evidence for a physically altered -galactosidase.Fabry's disease: absence of an -galactosidase isozyme.Anderson-Fabry disease.Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and GlobotriaosylceramideAcid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's diseaseElevated globotriaosylsphingosine is a hallmark of Fabry disease.Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTLong term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.Angiokeratoma corporis diffusum: the evolution of a disease entityOrgan manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.Combined transgenic expression of alpha-galactosidase and alpha1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galalpha(1,3)Gal.Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.Fabry disease superimposed on overt autoimmune hypothyroidismBasilar artery aneurysm and Anderson-Fabry disease.Early therapeutic intervention in females with Fabry disease?Home therapy for lysosomal storage disorders.
P2860
Q21004071-1348DCEF-E15D-4392-A566-66A69DDDE818Q24795877-0AE9621C-64AB-4655-AD2B-7A9E32096ACFQ28477142-785DC2BD-5600-41D9-9219-86494B198A79Q30578294-11F71892-46C8-4FED-8845-A17BA0DE9231Q33586024-D8C902E9-02C3-4FB3-8361-A24ACCB6F6D5Q33587229-D5126A86-04B4-47B3-A328-EB5F1A2A8DE4Q33587415-8FC07187-09F5-4609-9EFA-F31C6A7F909AQ33588392-AA797F31-E4A9-4060-95FF-D4C54B816E7FQ33667637-743C3F36-07F2-4F60-B9A8-CD3A62460FBCQ33831482-F3DDF41D-C1AC-4FF5-930A-1ED04F9B4743Q33866320-EF5B8F58-EA02-42FF-8A92-230C6EFBF745Q34039222-2F703A9A-7011-4BDA-8F07-922E68FADDFAQ34567962-E47AB48B-A34A-4D59-9F58-409623358792Q34577897-53EDF035-D085-4E7C-9DB4-E11F8ECD2435Q34586506-AF816764-9299-4EBB-BB31-1B98E9BA7D72Q34671627-4F6CC0DC-2019-4D43-BDC3-D81DD7A71C64Q34974879-3CAF63D4-D4A9-437A-A33F-058658AAF25EQ34981327-D95BA22E-86F3-429B-B96E-0B6143BC9CB4Q35143041-5A191135-F187-45A4-99C7-B355CD22B2CAQ35149519-AAD57373-FF82-4375-B1DC-24E4FB6963FCQ35247511-E730C23A-D9AD-4946-97DD-6C847E0D23C7Q35542204-A835B8FD-FA07-4639-BE73-396AB70A058CQ35569240-BACF36DB-75F0-4E5A-864E-A2B710A38684Q35569319-654F9E98-BF08-4EB5-A07B-BEC5865BAA85Q35569338-2530956C-12E5-46C0-947B-7E9930FDD660Q35569369-125A142D-7EDA-4B2A-A9F8-3CA0CEA8742DQ35703455-25AC904C-86DE-4912-ADD6-15951B834B8FQ35751224-027D5F37-6244-41A2-8126-379D00668928Q36359261-FF3989A4-5E71-42F9-A441-04AA2E585E79Q36498349-FEC58F15-E24F-4108-A967-CA689C5256A9Q36590955-0F5085DD-3384-408D-B213-1A7DD93FE1CFQ36767452-96B9DD3D-D873-41F6-AC80-9812A142FB2FQ36811997-1889B91E-007C-46D0-9F47-7D45CCE7863BQ36819212-44112A66-2785-4FDB-A521-D7F091A6DC97Q36829733-F942678A-EDE2-437C-8243-F3576679C6C6Q36854195-D75092D0-BFF5-4FD4-AB56-719637115474Q36943205-4A08C79F-4F5D-4DAF-9713-33C72DED4D6AQ36997086-F560DEE6-9B39-424E-8396-2800A4EA1A56Q37109597-3263992A-BCC0-411C-B5F0-794BC6B6B01CQ37117046-192475FA-6F8B-4314-B182-C6F4E14E2BD1
P2860
description
1970 nî lūn-bûn
@nan
1970 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1970 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1970年の論文
@ja
1970年論文
@yue
1970年論文
@zh-hant
1970年論文
@zh-hk
1970年論文
@zh-mo
1970年論文
@zh-tw
1970年论文
@wuu
name
Fabry's disease: alpha-galactosidase deficiency.
@ast
Fabry's disease: alpha-galactosidase deficiency.
@en
Fabry's disease: alpha-galactosidase deficiency.
@nl
type
label
Fabry's disease: alpha-galactosidase deficiency.
@ast
Fabry's disease: alpha-galactosidase deficiency.
@en
Fabry's disease: alpha-galactosidase deficiency.
@nl
prefLabel
Fabry's disease: alpha-galactosidase deficiency.
@ast
Fabry's disease: alpha-galactosidase deficiency.
@en
Fabry's disease: alpha-galactosidase deficiency.
@nl
P1433
P1476
Fabry's disease: alpha-galactosidase deficiency.
@en
P2093
P304
P356
10.1126/SCIENCE.167.3922.1268
P407
P577
1970-02-01T00:00:00Z