Yolande Thomasse

Hereditary Tyrosinemia Type I: A New Clinical Classification With Difference in Prognosis on Dietary Treatment

Francjan J. van Spronsen, Yolande Thomasse, Peter Smit et al. · Hepatology · 1994 · 192 citations

New Clinical Classification, Tyrosinemia Type, Disease Progression +23

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Joanne Verheij, Sonja A. de Munnik, Trijnie Dijkhuizen et al. · European Journal of Medical Genetics · 2009 · 69 citations

Congenital Heart Defect, Neurology, Interstitial Deletion +2

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

Marian A. J. Weterman, P. G. Barth, Karin Y. van Spaendonck‐Zwarts et al. · Brain · 2013 · 57 citations · Full text

Rare Diseases, Recessive Myl2 Mutations, Cardiomyopathy +14

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation

F. J. van Spronsen, Gerrit Smit, Frits A. Wijburg et al. · Journal of Inherited Metabolic Disease · 1995 · 26 citations

Risk Assessment, Transplantation Surgery, Transplantation +4