JOSE MARIA
FRAGA BERMUDEZ
Researcher in the period 1978-2023
![Foto de JOSE MARIA](/img/nophoto.png)
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Centro de Investigación Médica Aplicada
Pamplona, EspañaPublications in collaboration with researchers from Centro de Investigación Médica Aplicada (3)
2015
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