TY  - JOUR
AU  - Vieitez, Irene
AU  - Souto-Rodriguez, Olga
AU  - Fernandez-Mosquera, Lorena
AU  - San Millan, Beatriz
AU  - Teijeira, Susana
AU  - Fernandez-Martin, Julian
AU  - Martinez-Sanchez, Felisa
AU  - Aldamiz-Echevarria, Luis Jose
AU  - Lopez-Rodriguez, Monica
AU  - Navarro, Carmen
AU  - Ortolano, Saida
PY  - 2018
DO  - 10.1186/s13023-018-0792-8
UR  - http://hdl.handle.net/10668/12324
T2  - Orphanet journal of rare diseases
AB  - Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often...
LA  - en
KW  - Enzymatic screening
KW  - Fabry disease
KW  - GLA complex haplotype
KW  - Intronic variants
KW  - Lysosomal storage disorders
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Child
KW  - Child, Preschool
KW  - Fabry Disease
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Spain
KW  - Young Adult
KW  - alpha-Galactosidase
TI  - Fabry disease in the Spanish population: observational study with detection of 77 patients.
TY  - research article
VL  - 13
ER  -