Fabry Disease: Molecular Heterogeneity and Phenotype-Genotype Correlations

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study

Yearbook of Neurology and Neurosurgery ◽

10.1016/s0513-5117(08)70042-5 ◽

2007 ◽

Vol 2007 ◽

pp. 63-64

Author(s):

N.F. Schor

Keyword(s):

Prospective Study ◽

Fabry Disease ◽

Cryptogenic Stroke ◽

A Prospective Study

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Searching for an additional treatment to slowing the progression of Fabry disease

Minerva Medica ◽

10.23736/s0026-4806.18.05799-3 ◽

2019 ◽

Vol 110 (2) ◽

Author(s):

Verdiana Ravarotto ◽

Gianni Carraro ◽

Francesca Simioni ◽

Giovanni Bertoldi ◽

Elisa Pagnin ◽

...

Keyword(s):

Fabry Disease ◽

Additional Treatment

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Molecular heterogeneity of midbrain dopamine neurons

Intrinsic Activity ◽

10.25006/ia.4.s2-a2.1 ◽

2016 ◽

Vol 4 (Suppl. 2) ◽

pp. A2.1

Author(s):

Siew-Lan Ang

Keyword(s):

Dopamine Neurons ◽

Molecular Heterogeneity ◽

Midbrain Dopamine ◽

Midbrain Dopamine Neurons

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Human medicines European public assessment report (EPAR): Fabrazyme, agalsidase beta, Fabry Disease, Date of authorisation: 03/08/2001, Revision: 26, Status: Authorised

Case Medical Research ◽

10.31525/cmr-19715f1 ◽

2019 ◽

Author(s):

Keyword(s):

Fabry Disease ◽

Agalsidase Beta ◽

Assessment Report ◽

European Public ◽

European Public Assessment Report

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Orphan designation: Adeno-associated viral vector serotype 8 containing the human alpha-galactosidase A gene, Treatment of Fabry disease

Case Medical Research ◽

10.31525/cmr-128cc2f ◽

2019 ◽

Author(s):

Keyword(s):

Fabry Disease ◽

Viral Vector ◽

Orphan Designation ◽

Gene Treatment ◽

Alpha Galactosidase

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Screening for Fabry Disease in Renal Transplantation

Case Medical Research ◽

10.31525/ct1-nct03886714 ◽

2019 ◽

Author(s):

Keyword(s):

Renal Transplantation ◽

Fabry Disease

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Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy

Case Medical Research ◽

10.31525/ct1-nct03869554 ◽

2019 ◽

Author(s):

Keyword(s):

Fabry Disease ◽

Renal Biopsy ◽

Screening Strategy

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Faculty Opinions recommendation of Molecular heterogeneity of developing retinal ganglion and amacrine cells revealed through single cell gene expression profiling.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1082928.535886 ◽

2007 ◽

Author(s):

Alain Ghysen

Keyword(s):

Gene Expression ◽

Single Cell ◽

Gene Expression Profiling ◽

Expression Profiling ◽

Amacrine Cells ◽

Molecular Heterogeneity ◽

Retinal Ganglion ◽

Cell Gene Expression ◽

Cell Gene

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Faculty Opinions recommendation of Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12909960.14201055 ◽

2011 ◽

Author(s):

David E Sandberg

Keyword(s):

International Experience ◽

Molecular Heterogeneity ◽

Reductase Deficiency ◽

5Α Reductase Deficiency

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Faculty Opinions recommendation of Single-cell analysis of the common lymphoid progenitor compartment reveals functional and molecular heterogeneity.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1366959.838057 ◽

2010 ◽

Author(s):

Avinash Bhandoola

Keyword(s):

Single Cell ◽

Single Cell Analysis ◽

Molecular Heterogeneity ◽

Cell Analysis ◽

The Common ◽

Progenitor Compartment

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