Publicaciones
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Couce ML, Pérez-Cerdá C, García Silva MT, Garcia-Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol-Plana J, Fraga JM, Pérez B and Ugarte M.
Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease
MEDICINA CLINICA . 137(11): 500-503. Nº de citas: 8
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Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.
Hypokinetic-rigid syndrome in children and inborn errors of metabolism
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Nº de citas: 10
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Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia-Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF and Burgard P.
Diagnosis and management of glutaric aciduria type I - revised recommendations
JOURNAL OF INHERITED METABOLIC DISEASE . 34(3): 677-694. Nº de citas: 239
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Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders
CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Nº de citas: 7
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Ormazabal-Herrero A, Pérez-Dueñas B, Sierra-March C, Urreitzi R, Montoya J, Serrano M, Campistol-Plana J, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
CLINICAL BIOCHEMISTRY . 44(8-9): 719-721. Nº de citas: 12
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Pérez-Dueñas B, Ormazabal-Herrero A, Toma C, Torrico B, Cormand B, Serrano M, Sierra-March C, De Grandis E, Pineda M, Garcia-Cazorla A, Campistol-Plana J, Pascual JM and Artuch-Iriberri R.
Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects
Archives of Neurology . 68(5): 615-621. Nº de citas: 47
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Duarte ST, Ortez-Gonzalez CI, Pérez A, Artuch-Iriberri R and Garcia-Cazorla A.
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 34(2): 523-528. Nº de citas: 6
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Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.
Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency
JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de citas: 6
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García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency
EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Nº de citas: 9
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Espinós C, Garcia-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F and Artuch-Iriberri R.
Ancient origin of the CTH alelle carrying the c. 200C>T (p.T67I) variant in patients with cystathioninuria
CLINICAL GENETICS . 78(6): 554-559. Nº de citas: 10