Gisele Pino

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

P. Rinaldo, D. Matern, S. Tortorelli, 2020, International journal of neonatal screening.

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.

J. Merritt, P. Rinaldo, L. L. Brody, 2018, Molecular genetics and metabolism.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Brian C. Netzel, M. Schultz, P. Rinaldo, 2020, Molecular genetics and metabolism.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

R. Giugliani, P. Rinaldo, D. Matern, 2019, Molecular genetics and metabolism.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.