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Journal of Neurology, Neurosurgery, and Psychiatry|May 1, 1988
Secondary bilateral synchrony in unilateral pial angiomatosis: successful surgical treatmentJ J Chevrie, N Specola, J AicardiNeurology|January 1, 1990
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneityN Specola, M T Vanier, F Goutières, et al.Enzyme|January 1, 1987
Hyperketotic states due to inherited defects of ketolysisJ M Saudubray, N Specola, B Middleton, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)H Amartino, R Ceci, F Masllorens, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year surveyJ M Saudubray, H Ogier, J P Bonnefont, et al.Orphanet Journal of Rare Diseases|July 30, 2022
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studiesA L S Pessoa, A M Martins, E M Ribeiro, et al.Ceskoslovenska Pediatrie|January 1, 1990
[Clinical approach to hereditary metabolic disorders in neonates. Review of 20 years' experience]J M Saudubray, H Ogier, J P Bonnefont, et al.Journal of Inherited Metabolic Disease|June 16, 2010
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin AmericaBelén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, et al.Pageof 1