Manuela Tolve

Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation

Martino L. di Salvo, Mario Mastrangelo, Isabel Nogués et al. · Molecular Genetics and Metabolism · 2017 · 39 citations

Life Sciences, Genetics, Molecular Genetics +8

Delineating the neurological phenotype in children with defects in the <scp><i>ECHS1</i></scp> or <scp><i>HIBCH</i></scp> gene

Laura Martí‐Sánchez, Heidy Baide‐Mairena, Anna Marcé‐Grau et al. · Journal of Inherited Metabolic Disease · 2020 · 38 citations

Life Sciences, Genetics, Neurology +12

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Claudia Carducci, Silvia Santagata, Jennifer Friedman et al. · Molecular Genetics and Metabolism · 2015 · 24 citations

Pharmacy, Biochemistry, Internal Medicine +5

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Riccardo Montioli, Roberta Battini, Alessandro Paiardini et al. · Molecular Genetics and Metabolism · 2019 · 21 citations

Life Sciences, Genetics, Molecular Genetics +16

Very early pattern of movement disorders in sepiapterin reductase deficiency

Vincenzo Leuzzi, Claudia Carducci, Manuela Tolve et al. · Neurology · 2013 · 19 citations

Life Sciences, Genetics, Neurology +17