Francjan J. van Spronsen

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

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor

Saskia B. Wortmann, Johan L.K. Van Hove, Terry G. J. Derks et al. · Blood · 2020 · 173 citations · Full text

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 170 citations

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +14

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Bernd Schwahn, Francjan J. van Spronsen, Abdel Ali Belaidi et al. · The Lancet · 2015 · 138 citations

Medicine, Pharmacology, Prospective Cohort Study

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 138 citations · Full text