Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Departamento
Centro de Investigación Médica Aplicada
Pamplona, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Médica Aplicada (6)
2022
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Multi-omics signatures of the human early life exposome
Nature Communications, Vol. 13, Núm. 1
2015
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Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]
Molecular Genetics and Metabolism
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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, Núm. 1, pp. 54-65
2013
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Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221
2008
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Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme
Journal of Inherited Metabolic Disease, Vol. 31, Núm. SUPPL. 2