Publicaciones
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Cárdenes, CL, Sanchez-Cañete, AM, Santamaría, SV, Galindo, CG, Sanz, NM, González, AT, Castro, EB, Tirado, AM, Garcia, MG, Rozas, ML, Riesgo, TR, Beltrán, MA, Martínez, JG, González, MS, Romero, RG, Hernández, D, Codoceo, MM, Fernández, CM, Gómez, CT, Rubio, ET, Pérez, PO, Eseverri, IL, García-Volpe C, Lobato, ES, Rivada, AM, Millan, ARC, Castillo, RDB, San Nicolás, SS, Hurtado, MM, Gaudiza, EC, Martínez, íMM and Jiménez, DG.
Effects on growth, weight and body composition after CFTR modulators in children with cystic fibrosis
PEDIATRIC PULMONOLOGY . 59(12): 3632-3640. Nº de citas: 5
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Campistol-Plana J.
Epilepsy or functional neurological disorders. Strategies for diagnosis
MEDICINA-BUENOS AIRES . 84: 69-74.
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Granjo, Pedro, Pascoal, Carlota, Gallego, Diana, Francisco, Rita, Jaeken, Jaak, Moors, Tristen, Edmondson, Andrew C, Kantautas, Kristin A, Serrano M, Videira, Paula A and Dos Reis Ferreira, Vanessa.
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
ORPHANET JOURNAL OF RARE DISEASES . 19(1): 407-407. Nº de citas: 1
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Serrano M.
Rare diseases: unraveling the biological basis to find future therapies
MEDICINA-BUENOS AIRES . 84: 9-14. Nº de citas: 1
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Muntau, AC, Longo, N, Ezgu, F, Schwartz, IVD, Lah, M, Bratkovic, D, Margvelashvili, L, Kiykim, E, Zori, R, Campistol-Plana J, Bélanger-Quintana, A, Lund, A, Guilder, L, Chakrapani, A, Mungan, HN, Guimas, A, Guerra, IDC, MacDonald, A, Ingalls, K and Smith, N.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
Lancet . 404(10460): 1333-1345. Nº de citas: 12
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Pajusalu S, Vals AM, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E and Ounap K.
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
HUMAN MUTATION . 2024: 8813121-8813121. Nº de citas: 2
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Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
AMERICAN JOURNAL OF NEURORADIOLOGY . 45(10): 1570-1577. Nº de citas: 1
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451. Nº de citas: 2
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Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes
CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 62(10): 1991-2000. Nº de citas: 1
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Mayayo-Vallverdú C, Gaitán-Peñas H, Armand-Ugon M, Muhaisen A, Prat E, Castellanos A, Elorza-Vidal X, de Heredia ML, Alonso-Gardón M, Pérez-Rius C, Vecino-Pérez M, Mallen A, Errasti-Murugarren E, Hueso M, Artuch-Iriberri R, Nunes V and Estévez R.
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia
JOURNAL OF PHYSIOLOGY-LONDON . 602(17): 4291-4307. Nº de citas: 1
