Implementación de programas de transición de la adolescencia a la edad adulta
Moreno-Galdó, Antonio, Regné Alegret, Maria Creu, Aceituno López, María Angeles, Camprodón-Gómez, María, Martí Beltran, Sergi, Lara Fernández, Roser, del-Toro-Riera, Mireia
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2023)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2023)
Get full text
Journal Article
Giant Calcinosis in Dermatomyositis and Scleroderma Overlap
Fernández‐Codina, Andreu, Camprodon‐Gómez, Maria, Pope, Janet E.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2020)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2020)
Get full text
Journal Article
Implementation of programmes for the transition of adolescents to adult care
Moreno-Galdó, Antonio, Regné-Alegret, Maria Creu, Aceituno-López, María Angeles, Camprodón-Gómez, María, Martí-Beltran, Sergi, Lara-Fernández, Roser, Del-Toro-Riera, Mireia
Published in Anales de Pediatría (01.12.2023)
Published in Anales de Pediatría (01.12.2023)
Get full text
Journal Article
Implementation of programmes for the transition of adolescents to adult care
Antonio Moreno-Galdó, Maria Creu Regné-Alegret, María Angeles Aceituno-López, María Camprodón-Gómez, Sergi Martí-Beltran, Roser Lara-Fernández, Mireia del-Toro-Riera
Published in Anales de Pediatría (01.12.2023)
Get full text
Published in Anales de Pediatría (01.12.2023)
Journal Article
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex
Blasco-Pérez, Laura, Iranzo-Nuez, Leticia, López-Ortega, Ricard, Martínez-Cruz, Desirée, Camprodon-Gómez, María, Tenés, Anna, Antolín, María, Tizzano, Eduardo F., García-Arumí, Elena
Published in The Journal of molecular diagnostics : JMD (01.09.2023)
Published in The Journal of molecular diagnostics : JMD (01.09.2023)
Get full text
Journal Article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Martín-Hernández, Elena, Quijada-Fraile, Pilar, Correcher, Patricia, Meavilla, Silvia, Sánchez-Pintos, Paula, de Las Heras Montero, Javier, Blasco-Alonso, Javier, Dougherty, Lucy, Marquez, Ana, Peña-Quintana, Luis, Cañedo, Elvira, García-Jimenez, María Concepción, Moreno Lozano, Pedro Juan, Murray Hurtado, Mercedes, Camprodon Gómez, María, Barrio-Carreras, Delia, de Los Santos, Mariela, Del Toro, Mireia, Couce, María L, Vitoria Miñana, Isidro, Morales Conejo, Montserrat, Bellusci, Marcello
Published in Journal of clinical medicine (28.08.2022)
Published in Journal of clinical medicine (28.08.2022)
Get full text
Journal Article
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J, Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar
Published in Biomedicines (01.10.2023)
Published in Biomedicines (01.10.2023)
Get full text
Journal Article
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life
Friedman, Jennifer, Lucas‐Del‐Pozo, Sara, Moreno‐Martinez, David, Camprodon‐Gomez, Maria, Moreno‐Martinez, Daniel, Hernandez‐Vara, Jorge, Kurian, Manju A.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2021)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2021)
Get full text
Journal Article
Clinical Images: Giant calcinosis in dermatomyositis and scleroderma overlap
Fernández-Codina, Andreu, Camprodon-Gómez, Maria, Pope, Janet E
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2020)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2020)
Get full text
Journal Article
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants
Blasco-Pérez, Laura, Iranzo-Nuez, Leticia, López-Ortega, Ricard, Martínez-Cruz, Desirée, Camprodon-Gómez, María, Tenés, Anna, Antolín, María, Tizzano, Eduardo F, García-Arumí, Elena
Published in The Journal of molecular diagnostics : JMD (01.09.2023)
Published in The Journal of molecular diagnostics : JMD (01.09.2023)
Get full text
Journal Article
Bone disease in eliglustat treated Gaucher disease type 1 patients: A real-world experience in a tertiary referral hospital
Valls-Villalba, Àngel, Camprodon-Gómez, Maria, Moreno-Martinez, Daniel, Hernandez-Vara, Jorge, Arranz-Amo, Jose Antonio, Carnicer-Caceres, Clara
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
Get full text
Journal Article
Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies
Giraldo, Pilar, Stanescu, Sinziana, Medina, Patricia Correcher, Gómez, Maria Camprodon, del Castillo, Francisco J., Arto-Millan, Luis, Belanger, Amaya, Langhetee, Lydia Diez, Campos, Oscar Garcia, Perez-Moreno, Jimena, Rubio, Barbara, Visa-Reñé, Nuria
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
Get full text
Journal Article
289. TRACHEO-BRONCHIAL STENOSIS IN PATIENTS WITH GRANULOMATOSIS WITH POLYANGIITIS
Gómez, Maria Camprodon, Rios, Juan Jose, Hernandez, Fco Jose Garcia, Solanich, Xavier, Fonseca, Eva, Garcia-Sanchez, Isabel, Solans, Roser
Published in Rheumatology (Oxford, England) (01.03.2019)
Published in Rheumatology (Oxford, England) (01.03.2019)
Get full text
Journal Article
049. RITUXIMAB THERAPY FOR REFRACTOR/RELAPSING GRANULOMATOUS MANIFESTATIONS DUES TO GRANULOMATOSIS WITH POLYANGIITIS
Solans-Laque, Roser, Gómez, Maria Camprodon, Lorente, Juan, Bujan, Segundo, Deu, Maria, Martinez-Valle, Ferran, Andreu, Jordi
Published in Rheumatology (Oxford, England) (01.03.2019)
Published in Rheumatology (Oxford, England) (01.03.2019)
Get full text
Journal Article
Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)
Camprodon-Gomez, Maria, Valls-Villalba, Àngel, Riera, Mireia Del Toro
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
Get full text
Journal Article
Diagnostic strategies for hydrocephalus detection in MPS patients
De Miguel, Lucy Dougherty, Camprodon-Gomez, Maria, Alvarez, Ignacio Delgado, Felipe, Ana, Poca, M.A., Peccorini, Ana Gabriela Lungo, Riera, Mireia Del Toro
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
Get full text
Journal Article
Evaluation of a Liquid Chromatography–Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson’s Disease Patients
Castillo-Ribelles, Laura, Arranz-Amo, Jose Antonio, Hernández-Vara, Jorge, Samaniego-Toro, Daniela, Enriquez-Calzada, Silvia, Pozo, Sara Lucas-Del, Camprodon-Gomez, Maria, Laguna, Ariadna, Gonzalo, Mercedes Arrúe, Ferrer, Roser, Martinez-Vicente, Marta, Carnicer-Caceres, Clara
Published in Analytical chemistry (Washington) (06.08.2024)
Published in Analytical chemistry (Washington) (06.08.2024)
Get full text
Journal Article