Publications
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Casado-Rio M, Ferrer-Lopez, I, Ruiz-Sala, P, Perez-Cerda, C and Artuch-Iriberri R.
Urine oligosaccharide tests for the diagnosis of oligosaccharidoses
REVIEWS IN ANALYTICAL CHEMISTRY . 36(3): . Number of citations: 7
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Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Marti-Sanchez L.
Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors
ANNALS OF NEUROLOGY . 82(3): 317-330. Number of citations: 50
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de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Number of citations: 15
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Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, Roche F, Meavilla-Olivas SM, Pérez-Cerdá C, García Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T and Tugores A.
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
CLINICAL GENETICS . 92(3): 306-317. Number of citations: 21
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van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH and MacDonald A.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
LANCET DIABETES & ENDOCRINOLOGY . 5(9): 743-756. Number of citations: 288
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Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodriguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Cascajo MV, Velasco I, Canals JM, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch-Iriberri R, Navas P and Menéndez P.
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Stem Cells . 35(7): 1687-1703. Number of citations: 24
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Mendes MI, Smith DE, Pop A, Lennertz P, Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Baric I, Boelen C, Campistol-Plana J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M and Salomons GS.
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
HUMAN MUTATION . 38(5): 524-531. Number of citations: 22
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Yubero-Siles D, Allen G, Artuch-Iriberri R and Montero-Sanchez R.
The Value of Coenzyme Q10 Determination in Mitochondrial Patients
Journal of Clinical Medicine . 6(4): 37-37. Number of citations: 22
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Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
JOURNAL OF PEDIATRICS . 183: 170-170. Number of citations: 25
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Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Number of citations: 22