Pediatría
Departamento
Charles University in Prague
Praga, República ChecaPublicaciones en colaboración con investigadoras/es de Charles University in Prague (4)
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
2014
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1
2010
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110
1998
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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Nature Genetics, Vol. 19, Núm. 3, pp. 279-281