Concepedia

R. Cerone

RC

39

Publications

3.1K

Citations

25

H-Index

1982

Active since

Affiliations

Istituto Giannina Gaslini(Current)

University of Genoa

University Children's Hospital Zurich

University of Padua

Bambino Gesù Children's Hospital

R. Cerone is an author at Istituto Giannina Gaslini specializing in medicine, genetics, and metabolism.

Top concepts

Publications per year

1982–2019

39

Publications

39

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 165 citations · Full text

Glycine <b><i>N</i></b><b>‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia</b>

S. Harvey Mudd, R. Cerone, M. C. Schiaffino et al. · Journal of Inherited Metabolic Disease · 2001 · 150 citations

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Célia Nogueira, Chiara Aiello, R. Cerone et al. · Molecular Genetics and Metabolism · 2008 · 109 citations

, , +8

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Stefanie Keil, Karen Anjema, Francjan J. van Spronsen et al. · PEDIATRICS · 2013 · 79 citations · Full text

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