J. Pérez-López

发表

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

J. Pérez-García, A. Llombart-Cussac, J. Cortés, 2019, Orphanet Journal of Rare Diseases.

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

J. Szer, B. Bembi, A. Mehta, 2019, Internal medicine journal.

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.

S. García-Morillo, A. Selva-O'Callaghan, M. Vilardell‐Tarrés, 2015, Molecular genetics and metabolism.

Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.

E. Luño, P. Giraldo, R. Núñez, 2016, Blood cells, molecules & diseases.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

C. Hendriksz, K. Stepien, C. Lampe, 2020, Orphanet Journal of Rare Diseases.

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

J. Milisenda, J. Pérez-López, M. Morales-Conejo, 2017, Molecular genetics and metabolism reports.

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)

J. Pérez-García, A. Llombart-Cussac, J. Cortés, 2020, International journal of environmental research and public health.

Safety and efficacy of home intravenous antimicrobial infusion therapy in older patients: a comparative study with younger patients

J. Pérez-López, J. Pardos-Gea, A. San José Laporte, 2008, International journal of clinical practice.

The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus.

J. Torrent-Farnell, J. Poveda, I. Abaitua, 2018, Health policy.

Clinical guidelines for late-onset Pompe disease.

A. López de Munain, S. Pascual-Pascual, I. Illa, 2012, Revista de neurologia.

Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation

J. Esteve, A. Díez-Pérez, X. Solanich, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[Home intravenous antibiotic therapy of empyema and lung abscess: safety and efficacy].

J. Pérez-López, J. Pardos-Gea, A. San José Laporte, 2011, Enfermedades infecciosas y microbiologia clinica.

Transition of patients with mucopolysaccharidosis from paediatric to adult care

C. Hendriksz, K. Stepien, C. Lampe, 2019, Molecular genetics and metabolism reports.

Transition from pediatric care to adult care for patients with mucopolysaccharidosis

M. Couce, Á. Hermida-Ameijeiras, J. Pérez-López, 2018 .

Transition from paediatric care to adult care for patients with mucopolysaccharidosis.

M. Couce, Á. Hermida-Ameijeiras, M. del Toro, 2018, Revista clinica espanola.

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

M. Couce, J. Campistol, Á. H. Ameijeiras, 2016 .

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”

A. Llombart-Cussac, A. Malfettone, M. Sampayo-Cordero, 2021, Frontiers in Molecular Biosciences.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

C. Hendriksz, M. Riera, K. Stepien, 2019, Orphanet Journal of Rare Diseases.

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.

Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, 2017, Molecular genetics and metabolism.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

J. Szer, B. Bembi, A. Mehta, 2017, Molecular genetics and metabolism.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

P. Bauer, N. Ameziane, A. Bertoli-Avella, 2020, npj Genomic Medicine.

Primary cutaneous large B-cell lymphoma of the legs in a patient with primary Sjögren's syndrome.

M. Vilardell‐Tarrés, R. Solans-Laqué, J. Pérez-López, 2003, Clinical and experimental rheumatology.

Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.

M. del Toro, M. Moltó-Abad, C. Muñoz-Delgado, 2018, Molecular genetics and metabolism.

"Pregnancy in adult-onset idiopathic inflammatory myopathy": report from a cohort of myositis patients from a single center.

A. Fernández-Codina, M. Vilardell‐Tarrés, I. Pinal-Fernandez, 2014, Seminars in arthritis and rheumatism.

SAT0314 Pregnancy in Adult-Onset Idiopathic Inflammatory Myopathy. Report from A Cohort of Myositis Patients from A Single Center

A. Fernández-Codina, M. Vilardell‐Tarrés, I. Pinal-Fernandez, 2014 .

The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus.

L. Lizán, J. Pérez-López, M. Comellas, 2018, Health policy.