Research

Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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Publications

  • Cárdenas-Aguilera JG, González-López V, Zarante-Bahamón AM, Prieto-Rivera JC, Baquero-Rodríguez R, Chacón-Acevedo KR, Meza-Martínez AI, Serrano-Gayubo AK, Medina-Orjuela A, Cáceres-Mosquera JA, Guerrero-Tinoco GA, García-Rueda MF, Guarnizo-Zuccardi P, Herrera-Ortiz G, Rojas-Barrera C, Carrascal-Guzmán MI, Reina-Ávila MF, Arguinzoniz-Valenzuela SL, Belmont-Martínez L, Del-Pino M, Viterbo GL, Seijo M, Calzada-Hernández J, Guerra-Hernández NE and Brunetto OH.

    Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

    Endocrine . 87(2): 400-419.

    [doi:10.1007/s12020-024-04054-1]

  • Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.

    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

    ORPHANET JOURNAL OF RARE DISEASES . 20(1): 42-42.

    [doi:10.1186/s13023-024-03518-x]

  • Narváez J, Palacios-Olid J, García de Yebenes MJ, Holgado S, Olivé A, Casafont-Solé I, Castañeda S, Valero-Martínez C, Martín-López M, Carreira PE, Mora-Limiñana M, Nuño-Nuño L, Robles-Marhuenda A, Bernabeu P, Campos J, Graña J, Ortiz-Santamaria V, Camacho-Lovillo M, Vargas C, Sanchez-Manubens J and Anton-Lopez J.

    Non-Classical Complications of Adult-Onset Still's Disease: A Multicenter Spanish Study

    Journal of Clinical Medicine . 14(1): .

    [doi:10.3390/jcm14010285]

  • Castells Vilella L, Sánchez-Pintos P, Muñiz Llama JF, Gámez Martínez M, Couce ML and Anton-Lopez J.

    Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population

    ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE . 149(1): 19-25.

    [doi:10.5858/arpa.2023-0335-OA]

  • Brunner HI, Shmagel A, Horneff G, Foeldvari I, Anton-Lopez J, Ramanan AV, Qian Y, Unnebrink K, Hao S, Camp HS, Khan N, Liu W and Mohamed MF.

    Pharmacokinetics, Efficacy, and Safety of Upadacitinib in Pediatric Patients With Polyarticular-Course Juvenile Idiopathic Arthritis: An Interim Analysis of an Open-Label, Phase 1 Trial

    ARTHRITIS CARE & RESEARCH . : . Number of citations: 1

    [doi:10.1002/acr.25465]

  • Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovic MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Anton-Lopez J, Cattalini M, Berg S, Soler-Palacin P, Campbell M and Burns SO.

    Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

    JOURNAL OF CLINICAL IMMUNOLOGY . 45(1): 57-57.

    [doi:10.1007/s10875-024-01838-y]

  • Hernández-Rodríguez J, Mestre-Trabal L, Gómez-Caverzaschi V, Araújo O, Terenas M, Robaina R, Bolaños J, Prieto-González S, Anton-Lopez J, Yagüe J, Tomás X, Aldecoa I and Grau JM.

    Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features

    Journal of Clinical Medicine . 13(24): .

    [doi:10.3390/jcm13247630]

  • Fautrel B, Mitrovic S, De Matteis A, Bindoli S, Anton-Lopez J, Belot A, Bracaglia C, Constantin T, Dagna L, Di Bartolo A, Feist E, Foell D, Gattorno M, Georgin-Lavialle S, Giacomelli R, Grom AA, Jamilloux Y, Laskari K, Lazar C, Minoia F, Nigrovic PA, Oliveira Ramos F, Ozen S, Quartier P, Ruscitti P, Sag E, Savic S, Truchetet ME, Vastert SJ, Wilhelmer TC, Wouters C, Carmona L and De Benedetti F.

    EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease

    ANNALS OF THE RHEUMATIC DISEASES . 83(12): 1614-1627. Number of citations: 15

    [doi:10.1136/ard-2024-225851]

  • Anton-Lopez J, Mosquera-Angarita JM, Calzada-Hernández J, Iglesias-Jimenez E, Zacarias A, Olivé A, Bittermann V, Lorenzo TR, Remesal A, Quintana-Ortega C, Nuño-Nuño L, Robles-Marhuenda A, de Inocencio J, Martín-López M, Carreira PE, Brandy-García AM, Holgado S, Camacho-Lovillo M, Ruiz-Román A, Clemente D, Narváez J, Campos J, Sánchez-Manubens J, Bernabéu P, Graña J, Vargas C, Ortiz-Santamaria V, Castañeda S, de Yébenes MJG and Carmona L.

    Similarities and differences between systemic juvenile idiopathic arthritis and adult-onset Still's disease: a multicenter Spanish study

    RHEUMATOLOGY INTERNATIONAL . 44(12): 2911-2920. Number of citations: 1

    [doi:10.1007/s00296-024-05658-6]

  • Lengvári L, Takács K, Lengyel A, Pálinkás A, Wouters CH, Koné-Paut I, Kuemmerle-Deschner J, Jeyaratnam J, Anton-Lopez J, Lachmann HJ, Gattorno M, Hofer M, Toplak N, Weiser P, Kallinich T, Ozen S, Hentgen V, Uziel Y, Horváth Z, Szabados M, Brogan P, Constantin T and Frenkel J.

    Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations

    FRONTIERS IN IMMUNOLOGY . 15: 1466844-1466844.

    [doi:10.3389/fimmu.2024.1466844]