Concepedia
Orphanet Journal of Rare Diseases · 2019 · 33 citations · 24 references
Open access
24
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
Carlo Dionisi‐Vici, Cristiano Rizzo, Alberto Burlina et al. · The Journal of Pediatrics · 2002 · 245 citations
Nutrition, Inborn Errors, National Retrospective Survey +11
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation
Anna‐Kaisa Niemi, Irene Kim, Casey E. Krueger et al. · The Journal of Pediatrics · 2015 · 108 citations
Urology, Transplantation, Hepatology +6
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
María L. Couce, Daisy Castiñeiras, Ma Dolores Bóveda et al. · Molecular Genetics and Metabolism · 2011 · 101 citations · Full text
Nutrition, Inborn Errors, Neonatology +11