1 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY, 10029, USA. george.diaz@mssm.edu.
2 Medical Genetics Service HCPA, Department of Genetics UFRGS, DASA and Casa Dos Raros, Porto Alegre, Brazil.
3 Reference Centre of Inherited Metabolic Disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, Lyon, France.
4 Manchester University National Health Service Trust, St Mary's Hospital, Manchester, UK.
5 Institute of Clinical Science for Lysosomal Storage Disorders, SphinCS GmbH, Mainz, Germany.