Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. - Wikidata - awgldk - TriplyDB

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

http://www.wikidata.org/entity/Q53168010

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Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel Enzyme replacement therapy for Anderson-Fabry disease Enzyme replacement therapy for Anderson-Fabry disease Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease Enzyme replacement therapy for Anderson-Fabry disease A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function.Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?Effects 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) data Fabry disease in latin america: data from the fabry registry.Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry.The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).Angiokeratomas of Fabry successfully treated with intense pulsed light.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry Amiloride as an Alternate Adjuvant Antiproteinuric Agent in Fabry Disease: The Potential Roles of Plasmin and uPAR.Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis.Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Enzyme replacement therapy for Fabry disease: some answers but more questions Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

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P2860

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

http://www.wikidata.org/entity/Q53168010

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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Females with Fabry disease fre ...... ssons from the Fabry Registry.

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Females with Fabry disease fre ...... ssons from the Fabry Registry.

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Females with Fabry disease fre ...... ssons from the Fabry Registry.

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Females with Fabry disease fre ...... ssons from the Fabry Registry.

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prefLabel

Females with Fabry disease fre ...... ssons from the Fabry Registry.

@en

Females with Fabry disease fre ...... ssons from the Fabry Registry.

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J.YMGME.2007.09.013

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Molecular Genetics and Metabolism

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Females with Fabry disease fre ...... ssons from the Fabry Registry.

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Christine M Eng

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Christoph Wanner

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David G Warnock

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Fabry Registry

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Frank Breunig

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Gregory M Pastores

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Katherine Sims

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Kevin E Stanford

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Laszlo Marodi

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Maryam Banikazemi

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112-128

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scholarly article

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10.1016/J.YMGME.2007.09.013

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2

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93

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João Paulo Oliveira

Robert J. Hopkin

Dominique P Germain

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2007-11-26T00:00:00Z

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18037317

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