(Q52025819)

20 April 2018

title

Quantitative dysmorphology assessment in Fabry disease. (English)

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1

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Raphael Schiffmann

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object named as

Raphael Schiffmann

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author name string

David F Moore

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Chevalia J Robinson

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Cynthia J Tifft

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Kenneth N Rosenbaum

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Roscoe O Brady

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Donna Krasnewich

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language of work or name

English

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publication date

1 February 2006

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20 April 2018

published in

Genetics in Medicine

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volume

8

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issue

2

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page(s)

96-101

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Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)

cites work

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A CASE OF “ANGEIO-KERATOMA.”

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Pediatric Fabry disease

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The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

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Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

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Quantitative analysis of cerebral vasculopathy in patients with Fabry disease

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

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Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

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Fabry disease: overall effects of agalsidase alfa treatment

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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

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The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

21 January 2018

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Syndromology: an updated conceptual overview. VI. Molecular and biochemical aspects of dysmorphology

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Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

21 January 2018

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Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease).

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Mucolipidosis I — A sialidosis

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Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry

21 January 2018

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The Ocular Manifestations in Fabry's Disease

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Fabry's disease with familial lymphedema of the lower limbs. Case report and family study

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A Coefficient of Agreement for Nominal Scales

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21 January 2018

Identifiers

DOI

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20 April 2018

Dimensions Publication ID

1041841590

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20 April 2018