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Page 1
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres C, Villena-Ortiz Y, Castillo-Ribelles L, Barquín-Del-Pino R, Camprodon-Gomez M, Felipe-Rucián A, Moreno-Martínez D, Lucas-Del-Pozo S, Hernández-Vara J, García-Serra A, Tigri-Santiña A, Moltó-Abad M, Agraz-Pamplona I, Rodriguez-Palomares JF, Limeres-Freire J, Macaya-Font M, Rodríguez-Sureda V, Miguel LD, Del-Toro-Riera M, Pintos-Morell G, Arranz-Amo JA. Carnicer-Cáceres C, et al. Among authors: camprodon gomez m. Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5. Blood Cells Mol Dis. 2023. PMID: 36265282
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C, Camprodon-Gomez M, Moreno-Martinez D, Lucas-Del-Pozo S, Moltó-Abad M, Tigri-Santiña A, Agraz-Pamplona I, Rodriguez-Palomares JF, Hernández-Vara J, Armengol-Bellapart M, Del-Toro-Riera M, Pintos-Morell G. Carnicer-Cáceres C, et al. Among authors: camprodon gomez m. J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664. J Clin Med. 2021. PMID: 33924567 Free PMC article. Review.
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernández-Vara J. Lucas-Del-Pozo S, et al. Among authors: camprodon gomez m. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S37-S39. doi: 10.1002/mdc3.13295. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514046 Free PMC article. No abstract available.
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Friedman J, Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernandez-Vara J, Kurian MA. Friedman J, et al. Among authors: camprodon gomez m. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S40-S41. doi: 10.1002/mdc3.13304. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514047 Free PMC article. No abstract available.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: camprodon gomez m. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
Giant Calcinosis in Dermatomyositis and Scleroderma Overlap.
Fernández-Codina A, Camprodon-Gómez M, Pope JE. Fernández-Codina A, et al. Arthritis Rheumatol. 2020 Jul;72(7):1236. doi: 10.1002/art.41262. Epub 2020 May 27. Arthritis Rheumatol. 2020. PMID: 32182400 No abstract available.
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
Blasco-Pérez L, Iranzo-Nuez L, López-Ortega R, Martínez-Cruz D, Camprodon-Gómez M, Tenés A, Antolín M, Tizzano EF, García-Arumí E. Blasco-Pérez L, et al. Among authors: camprodon gomez m. J Mol Diagn. 2023 Sep;25(9):692-701. doi: 10.1016/j.jmoldx.2023.06.006. Epub 2023 Jun 24. J Mol Diagn. 2023. PMID: 37356622 Free article.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M. Stanescu S, et al. Among authors: camprodon gomez m. Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861. Biomedicines. 2023. PMID: 37893235 Free PMC 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 L, Arranz-Amo JA, Hernández-Vara J, Samaniego-Toro D, Enriquez-Calzada S, Pozo SL, Camprodon-Gomez M, Laguna A, Gonzalo MA, Ferrer R, Martinez-Vicente M, Carnicer-Caceres C. Castillo-Ribelles L, et al. Among authors: camprodon gomez m. Anal Chem. 2024 Aug 6;96(31):12875-12882. doi: 10.1021/acs.analchem.4c02654. Epub 2024 Jul 24. Anal Chem. 2024. PMID: 39047057
11 results