Fabry-CEP: A tool to identify Fabry mutations responsive to pharmacological chaperones

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Cammisa, Marco ^a   Correra, Antonella ^a   Andreotti, Giuseppina ^b   Cubellis, Maria Vittoria ^a,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CNR Consiglio Nazionale delle Ricerche   (Italy)

^c CNR   (Italy)

Author keywords

Fabry disease; Pharmacological chaperone; Therapy; Web application

Indexed keywords

ALPHA GALACTOSIDASE; MIGALASTAT;

AREA UNDER THE CURVE; ARTICLE; COMPUTER PROGRAM; DISULFIDE BOND; FABRY CEP; FABRY DISEASE; GENETIC CODE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROBABILITY; RECEIVER OPERATING CHARACTERISTIC; REFERENCE DATABASE; TREATMENT RESPONSE;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; DATABASES, PHARMACEUTICAL; FABRY DISEASE; HUMANS; INTERNET; MOLECULAR CHAPERONES; MUTATION; TREATMENT OUTCOME;

EID: 84880366642     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-111     Document Type: Article

References (9)

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