Ida Vanessa D. Schwartz

Universal newborn screening: A roadmap for action.

X. Zhao, E. McCabe, R. Giugliani, 2018, Molecular genetics and metabolism.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Zi-Fan Yu, Maurizio Scarpa, Paul Harmatz, 2010, Journal of Inherited Metabolic Disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Multidisciplinary Management of Hunter Syndrome

C. Eng, U. Ramaswami, R. Giugliani, 2009, Pediatrics.