TY  - JOUR
AU  - Gaspar, Paulo
AU  - Herrera, Julio
AU  - Rodrigues, Daniel
AU  - Cerezo, Sebastian
AU  - Delgado, Rodrigo
AU  - Andrade, Carlos F
AU  - Forascepi, Ramon
AU  - Macias, Juan
AU  - del Pino, Maria D
AU  - Prados, Maria D
AU  - de Alegria, de Pilar R
AU  - Torres, Gerardo
AU  - Vidau, Pedro
AU  - Sa-Miranda, Maria C
PY  - 2010
DO  - 10.1186/1471-2350-11-19
UR  - http://hdl.handle.net/10668/369
T2  - BMC medical genetics
AB  - Enfermedad de Fabry (FD), un trastorno ligado al cromosoma X de almacenamiento lisosomal, es causada por una reducción de la actividad de la enzima lisosomal alfa-galactosidasa A. El desorden en última instancia, conduce a daños en los órganos (que...
AB  - BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme alpha-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females....
LA  - en
PB  - BioMed Central
KW  - Alelos
KW  - Amino Acid Substitution
KW  - Genotipo
KW  - Heterocigoto
KW  - Mediana Edad
KW  - Mutación
KW  - Fenotipo
KW  - Diálisis Renal
KW  - alfa-Galactosidasa
KW  - España
KW  - Femenino
KW  - Masculino
KW  - Adulto
KW  - Anciano de 80 o más años
KW  - Humanos
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Amino Acid Substitution
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Fabry Disease
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Renal Replacement Therapy::Renal Dialysis
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Glycoside Hydrolases::Galactosidases::alpha-Galactosidase
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged::Aged, 80 and over
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
TI  - Frequency of Fabry disease in male and female haemodialysis patients in Spain
TY  - research article
ER  -