Publicacions
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Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 8
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de Salazar, MG, Grau-Páez C, Ciruela, F and Altafaj, X.
Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome
FRONTIERS IN MOLECULAR NEUROSCIENCE . 11: . Nº de cites: 3
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Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Nº de cites: 15
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Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan-Gordo M and Del Toro M.
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.
Molecular genetics and metabolism reports . 15: 116-120. Nº de cites: 11
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Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.
X-linked adrenoleukodystrophy with an atypical radiological pattern
REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de cites: 4
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Saudubray JM and Garcia-Cazorla A.
Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management
PEDIATRIC CLINICS OF NORTH AMERICA . 65(2): 179-208. Nº de cites: 137
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Tello C, Darling A, Lupo V, Pérez-Dueñas B and Espinós C.
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
CLINICAL GENETICS . 93(4): 731-740. Nº de cites: 23
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López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V and Domínguez-Garrido E.
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
BMC MEDICAL GENETICS . 19(1): 36-36. Nº de cites: 27
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Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de cites: 36
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Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system
ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Nº de cites: 39