GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Universidade Federal de São Paulo
São Paulo, BrasilPublicacións en colaboración con investigadores/as de Universidade Federal de São Paulo (3)
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2007
2006
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Journal of Human Genetics, Vol. 51, Núm. 4, pp. 305-313