TY  - JOUR
AU  - Andrade-Campos, Marcio
AU  - Alfonso, Pilar
AU  - Irun, Pilar
AU  - Armstrong, Judith
AU  - Calvo, Carmen
AU  - Dalmau, Jaime
AU  - Domingo, Maria-Rosario
AU  - Barbera, Jose-Luis
AU  - Cano, Horacio
AU  - Fernandez-Galán, Maria-Angeles
AU  - Franco, Rafael
AU  - Gracia, Inmaculada
AU  - Gracia-Antequera, Miguel
AU  - Ibañez, Angela
AU  - Lendinez, Francisco
AU  - Madruga, Marcos
AU  - Martin-Hernández, Elena
AU  - O'Callaghan, Maria Del Mar
AU  - Del Soto, Alberto Pérez
AU  - Del Prado, Yolanda Ruiz
AU  - Sancho-Val, Ignacio
AU  - Sanjurjo, Pablo
AU  - Pocovi, Miguel
AU  - Giraldo, Pilar
PY  - 2017
DO  - 10.1186/s13023-017-0627-z
UR  - http://hdl.handle.net/10668/11164
T2  - Orphanet journal of rare diseases
AB  - The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in...
LA  - en
KW  - Children
KW  - Enzymatic replacement therapy
KW  - Gaucher Disease
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Enzyme Replacement Therapy
KW  - Female
KW  - Gaucher Disease
KW  - Humans
KW  - Infant
KW  - Male
KW  - Registries
KW  - Spain
TI  - Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
TY  - research article
VL  - 12
ER  -