Publications
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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 . : .
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Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods
Nutrients . 15(15): .
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Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787.
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Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
BRAIN . 146(7): 3003-3013. Number of citations: 3
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 6
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Calvo-López A, Rebollo-Calderon B, Ormazabal-Herrero A, Artuch-Iriberri R, Rosell-Ferrer X, Alonso-Chamarro J and Puyol M.
Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood
ANALYTICA CHIMICA ACTA . 1205: 339782-339782. Number of citations: 3
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Afia AB, Vila E, MacDowell KS, Ormazabal-Herrero A, Leza JC, Haro JM, Artuch-Iriberri R, Ramos B and Garcia-Bueno B.
Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology
JOURNAL OF NEUROINFLAMMATION . 18(1): 198-198. Number of citations: 8
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Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness
PARKINSONISM & RELATED DISORDERS . 91: 19-22. Number of citations: 1
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Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Number of citations: 17
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Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Number of citations: 18