Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. - Wikidata - awgldk - TriplyDB

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

http://www.wikidata.org/entity/Q43765687

about

Genetics of ischaemic stroke in young adults A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease Genetic susceptibility to ischemic stroke.The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease Stroke and Fabry disease.Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke.Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Update on role of agalsidase alfa in management of Fabry disease.Fabry disease and early stroke Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.Frequency and etiological diagnosis of ischemic stroke in Chinese young adults.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.Monogenic causes of stroke: now and the future.Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.Is it Fabry disease?Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS).Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.Fabry disease and Factor V Leiden: a potent vascular risk combination.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.Fabry disease in unselected patients with TIA or stroke: population-based study.

P2860

Q26775633-354A7182-03EF-46AE-A36F-672A7007CC9F Q28478586-F2A175C6-2162-489D-B3F7-46CC8EBF3648 Q28485955-96D7BD0A-D195-448C-9D31-C639A3902DAA Q28535031-C51008A1-480F-476F-B6F3-D61BA3A7C3F8 Q30414709-282D5E98-0954-4F5B-801A-6499E4CEF13E Q30874048-609B9C5C-10CF-4682-81B8-138E3DC71B1D Q33594744-3552F60D-CCCD-4646-81F3-C9D776008399 Q34061632-33571436-72E2-4BC7-B920-8B07B61A9D6F Q34480067-B1B696BA-E540-4D29-8EED-99B896539AD1 Q34632438-1D478421-CD3A-4841-9B8E-4481D963EAFA Q34883178-224A5AE9-72CC-419E-BE97-D5B540FA07B9 Q35110216-11ED483C-E5AA-48C0-A203-D3FC2720CD24 Q35754682-69B9B3B7-4310-4C7E-9EAE-C4591D23796F Q35795399-2308099F-0716-4B15-90ED-CED5A5462022 Q35865045-9B19F708-BB12-41A5-AE2F-D9FB64ADD250 Q36590911-C7402EC7-7680-4D0E-AC15-335B825E1C5E Q36611898-17B62F9B-FA9C-43D4-8079-E4ADD21D923E Q36691965-F7BB83BB-76AC-4810-8416-D4D00E329D54 Q36800876-7F6EA74D-5AF7-44BD-9269-C757E51DBC8E Q37672375-4DF7B43F-EE74-4BBE-AD63-D97949F94BAF Q37994740-3845B020-7BD0-4677-92BC-199B13111445 Q38014163-5D0F1D8F-1FF7-4B3D-A8F0-331DFBDEEA27 Q38127171-A08D2AEC-A2E3-49A3-9B1D-08D92FA565DE Q38135874-8FD5A192-72DA-4F23-989D-FF33F98BF08E Q38513520-1F44BF71-A2FE-4C39-B1C8-58C0BC9DFF64 Q38633334-6144C862-AAF3-492C-93F1-420088D2BE47 Q38694212-53507253-D29A-4797-B37F-C67C5ED7B6C6 Q38831815-EEF14823-1E0A-47D9-B914-E470A13F79A6 Q38838270-A40EABF0-BF73-4989-A627-F3C2056D01B0 Q38844401-B7788E53-1BCA-491C-9736-345E3B348910 Q39916451-D988800E-C7FC-438B-8E28-4CD1B9E63324 Q40843747-82D7DF2F-30A0-4F48-A392-200CCA97A13B Q41861331-C9A69A15-7102-4677-BE8B-C398349C1E4B Q45236280-E72F2155-5EAB-4ADC-8AC8-8A95BB59353B Q47648317-30C1A678-D48A-4671-9BFA-C0055A457F3E Q47835191-B9855BAD-BAA5-425E-82C7-3DD3F7E753A0 Q48664517-89952F09-AB4A-4B42-9EB3-8EC985505404 Q51289036-6B6B822F-D0C2-4DCB-9D21-193E98242777 Q54312694-E64E9F90-E669-45DC-8AA5-C36FE7821FBA

P2860

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

http://www.wikidata.org/entity/Q43765687

description

2010 nî lūn-bûn

@nan

2010年の論文

@ja

2010年学术文章

@wuu

2010年学术文章

@zh-cn

2010年学术文章

@zh-hans

2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

@yue

2010年學術文章

@zh

2010年學術文章

@zh-hant

name

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@en

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@nl

type

label

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@en

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@nl

prefLabel

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@en

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@nl

P1433

Q43765687-2143E408-1DE9-4872-A0DA-4A06345002BD

P1476

Q43765687-781B5F37-DCFB-416D-8B99-59B97759848F

P2093

Q43765687-138A3EC3-E56E-495B-B4A7-7E4C89654C19

Q43765687-2B5DB9C7-A42E-49A3-90ED-802DD9C9E3AC

Q43765687-2CC1F79E-D01A-48C2-84FA-0F09C25046EB

Q43765687-8258ECD7-B038-4508-8774-0F8CEE50E549

Q43765687-8F024019-486E-4622-BD95-111AF7324155

Q43765687-93ED58A1-AC89-46A6-8730-D62C35EF59D4

Q43765687-9D12211C-1C12-4A27-94BA-31F1AE2D97BC

Q43765687-9D671DBA-0D71-450C-A201-E234B41424B4

Q43765687-9FC9F051-12E6-46A0-B23E-086FD4BA6AEC

Q43765687-A4ECDEFB-744E-47D1-B254-FE166444BD9F

P304

Q43765687-947B6504-6192-40C0-A50E-259CCE970049

P31

Q43765687-B5428FF4-E2C1-44F5-9A63-663D82901CF1

P356

Q43765687-52DAF3CE-FF2C-42FF-95F7-37C85B1F4125

P407

Q43765687-714FCB12-6EB7-4AE5-AFB1-636D83972CB6

P433

Q43765687-50FC9516-8054-4A16-BCCF-697726B1D620

P478

Q43765687-CF4193C4-DE62-4715-BDC5-8A6C0800ED1D

P50

Q43765687-1DA9EF3E-DDF5-4BF0-B80D-48FC4E507907

Q43765687-41EFB24E-C32B-42D2-8F69-5FDABCBB6F14

Q43765687-55B23B2A-992D-4291-83E5-CE1D5278BD6E

Q43765687-E703B841-D5C9-40E4-A759-84F5239037CB

P577

Q43765687-D9FB659C-22E6-477D-BC51-33B365E4AA16

P5875

Q43765687-D381786E-1743-4744-BD0F-0BA7E6E49B55

P698

Q43765687-BFB15AA7-82AD-4D14-8FF9-8C96C5DBCD6C

P921

Q43765687-B8ECC188-8C2E-4255-92FB-F1C348716202

P356

STROKEAHA.109.570499

P1433

P1476

Mutations of the GLA gene in y ...... tuguese young stroke patients.

@en

P2093

Ana A N Pinto

http://www.w3.org/2001/XMLSchema#string

André Leitão

http://www.w3.org/2001/XMLSchema#string

Assunção Tuna

http://www.w3.org/2001/XMLSchema#string

Carla Ferreira

http://www.w3.org/2001/XMLSchema#string

Cátia Carmona

http://www.w3.org/2001/XMLSchema#string

Fernando A Silva

http://www.w3.org/2001/XMLSchema#string

João Paulo Gabriel

http://www.w3.org/2001/XMLSchema#string

Marta Carvalho

http://www.w3.org/2001/XMLSchema#string

Miguel Rodrigues

http://www.w3.org/2001/XMLSchema#string

PORTuguese Young STROKE Investigators

http://www.w3.org/2001/XMLSchema#string

P304

431-436

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1161/STROKEAHA.109.570499

http://www.w3.org/2001/XMLSchema#string

P407

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

41

http://www.w3.org/2001/XMLSchema#string

P50

João Paulo Oliveira

Miguel Viana Baptista

P577

2010-01-28T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

41173838

http://www.w3.org/2001/XMLSchema#string

P698

20110537

http://www.w3.org/2001/XMLSchema#string

P921