A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
about
A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapyFrequency of Fabry disease in male and female haemodialysis patients in Spain.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Implementation of high-throughput screening for Fabry disease in Toronto dialysis patients.The coincidence of IgA nephropathy and Fabry diseaseClinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry diseaseScreening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.Fabry disease: a review of current management strategies.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations.Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registriesAngiokeratoma: a cutaneous marker of Fabry’s diseaseFabry disease. A potential pitfall A family with a novel intronic mutation
P2860
Q28478586-F3D3307E-B5C4-443C-A4AC-187809B76B89Q33528164-6C8EE315-A67C-445E-B8C7-D4315609B4C7Q33583826-001D9948-FF2C-4A3D-A174-9DDE468E4A11Q33816817-B07FF78D-9FE5-49F1-8977-14019E24D629Q34543669-BF9BFD30-1AE0-4C35-9D4F-F29E105C858AQ35981136-8E16AA70-4BF0-49C9-96E8-289EBC8C85BCQ36733611-23E80FA6-6F29-4FDF-9F13-AA05D879FBCFQ36819212-97C58965-A824-4293-B16F-1EAEA89E56F4Q37775790-76C756D6-6AA9-4469-B0E0-CCD28D374B84Q38127171-99918620-BC93-400C-8166-8211F6E0CB6CQ38152826-89F1BCF8-3C9C-4A5D-AC64-29984AD48E7AQ41562385-8A4749E0-754D-4FB9-9053-0AD1E7A112B0Q42136169-3501FA93-B7DB-4F6B-A5BB-F81DA788A154Q44282646-8F74C0F8-67EE-4385-BB8D-FC095F108DEFQ45236280-C36606C3-9148-4294-BA58-8EC819A5C023Q46085216-7F0DBD48-5BE2-400B-9A8C-37473EC4469FQ47835191-439540C4-3D92-428B-92CC-BC7710DAC1EDQ57234890-AE46D387-FA3E-4830-9824-73E906A6A1DEQ57234972-5D921371-D6DF-42A0-99A2-D9D4F509E6BAQ58757786-F3C5047C-608B-48AA-8AE8-2B3CC9ACEF06
P2860
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A nationwide blood spot screen ...... modialysis patient population.
@en
A nationwide blood spot screen ...... modialysis patient population.
@nl
type
label
A nationwide blood spot screen ...... modialysis patient population.
@en
A nationwide blood spot screen ...... modialysis patient population.
@nl
prefLabel
A nationwide blood spot screen ...... modialysis patient population.
@en
A nationwide blood spot screen ...... modialysis patient population.
@nl
P2093
P50
P356
P1476
A nationwide blood spot screen ...... emodialysis patient population
@en
P2093
Dita Maixnerová
Doris Sobotova
Jan Bultas
Jana Reiterova
Jana Smrzova
Jitka Slivkova
Miroslav Merta
Vladimir Tesar
P304
P356
10.1093/NDT/GFL528
P407
P577
2006-10-13T00:00:00Z