Results 111 to 120 of about 61,856,371 (158)

Reducción de costes del tratamiento de la enfermedad de Gaucher

Farmacia Hospitalaria, 2007
P. García Salom, A. Acedo
openaire   +1 more source

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. [PDF]

Mol Genet Metab, 2020
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP.   +19 more
europepmc   +1 more source

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. [PDF]

Nutrients
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J.   +17 more
europepmc   +1 more source

LXII Congreso Nacional de la SEHH, XXXVI Congreso Nacional de la SETH Virtual, 26-30 de octubre, 2020. [PDF]

Haematologica, 2020
The Authors.
europepmc   +1 more source

Enfermedad de Gaucher: a propósito de un caso

, 2002
Llorca, I.L., Noguera, O.V.
openaire   +2 more sources

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. [PDF]

Orphanet J Rare Dis, 2017
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P.   +23 more
europepmc   +1 more source

¿Qué es la hipertensión portal no cirrótica idiopática? [PDF]

Clin Liver Dis (Hoboken), 2016
García-Tsao G.
europepmc   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. [PDF]

J Transl Med, 2017
De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M, Spanish NP-C Group.   +9 more
europepmc   +1 more source