Norma Spécola

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

Jean‐Paul Bonnefont, Norma Spécola, Anne Vassault et al. · European Journal of Pediatrics · 1990 · 167 citations

Fasting Test, Pathological Hypo-, Diagnosis +2

Clinical approach to inherited metabolic diseases in the neonatal period: A 20‐year survey

J. M. Saudubray, H. Ogier, Jean‐Paul Bonnefont et al. · Journal of Inherited Metabolic Disease · 1989 · 63 citations

The juvenile and chronic forms of GM ₂ gangliosidosis

Norma Spécola, M. T. Vanier, Françoise Goutières et al. · Neurology · 1990 · 45 citations

Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis

José E. Abdenur, N. G. G. M. Abeling, Norma Spécola et al. · Molecular Genetics and Metabolism · 2005 · 41 citations

Organic Acid Analysis, Biochemistry, Inherited Metabolic Disease +3