Detalhe da pesquisa
1.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
2.
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
Mol Genet Metab
; 123(2): 69-75, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336994
3.
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Mol Genet Metab
; 121(2): 138-149, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28410878
4.
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Mol Genet Metab
; 122(3): 122-129, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847676
5.
Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.
Blood Cells Mol Dis
; 56(1): 23-30, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603719
6.
Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.
Mol Genet Metab
; 114(4): 580-3, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25752415
7.
The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: "The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis".
Front Mol Biosci
; 8: 690615, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34239895
8.
[Home intravenous antibiotic therapy of hepatic abscess: Safety, efficacy and predictive factor of hospital readmission]. / Tratamiento antibiótico intravenoso domiciliario del absceso hepático: seguridad, eficacia y factores pronósticos de reingreso hospitalario.
Med Clin (Barc)
; 134(11): 473-6, 2010 Apr 17.
Artigo
em Espanhol
| MEDLINE | ID: mdl-20202654
9.
The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).
Int J Environ Res Public Health
; 17(18)2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32927819
10.
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
Orphanet J Rare Dis
; 15(1): 114, 2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410642
11.
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
NPJ Genom Med
; 5: 44, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33083013
12.
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Orphanet J Rare Dis
; 14(1): 230, 2019 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639024
13.
[Intravenous antibiotic treatment in a hospital based home care unit. Predictors of hospital readmission]. / Antibioterapia intravenosa domiciliaria en una unidad de hospitalización a domicilio: factores pronósticos de reingreso hospitalario.
Med Clin (Barc)
; 131(8): 290-2, 2008 Sep 13.
Artigo
em Espanhol
| MEDLINE | ID: mdl-18803922
14.
Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.
J Bone Miner Res
; 32(7): 1575-1581, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263001
15.
[Home intravenous antibiotic therapy of empyema and lung abscess: safety and efficacy]. / Tratamiento antibiótico intravenoso domiciliario del empiema y el absceso pulmonar: seguridad y eficacia.
Enferm Infecc Microbiol Clin
; 29(3): 237-9, 2011 Mar.
Artigo
em Espanhol
| MEDLINE | ID: mdl-21354662
16.
The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: "The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis"
Front. mol. biosci.
; : 690615, jun. 2021. graf, tab
Artigo
em Inglês
| Redbvs | ID: biblio-1418391
17.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement]. / Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.
Med Clin (Barc)
; 147(11): 506.e1-506.e7, 2016 Dec 02.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27816186
18.
[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)]. / Guía para el seguimiento de la enfermedad de Pompe de inicio tardío.
Rev Neurol
; 60(7): 321-8, 2015 Apr 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25806482
19.
[Gene therapy for the treatment of inborn errors of metabolism]. / Terapia génica en el tratamiento de los errores congénitos del metabolismo.
Med Clin (Barc)
; 142(12): 549-53, 2014 Jun 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23932565
20.
"Pregnancy in adult-onset idiopathic inflammatory myopathy": report from a cohort of myositis patients from a single center.
Semin Arthritis Rheum
; 44(2): 234-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906908