1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos St., 2350, 3rd Floor, Porto Alegre 90035-903, Brazil
2. Post Graduation Program Ciências da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-903, Brazil
3. Post Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-903, Brazil
4. Division of Medical Genetics and Genomics, Washington University in Saint Louis, Saint Louis, MO 63130, USA
5. Department of Pathology and Immunology, Washington University in Saint Louis, Saint Louis, MO 63130, USA
6. Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Washington University in Saint Louis, Saint Louis, MO 63130, USA
7. Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-903, Brazil
8. Treatment Center of Inborn Errors of Metabolism, Instituto de Medicina Integral Professor Fernando Figueira, Recife 50070-902, Brazil
9. Pediatrics Gastroenterology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil
10. Pathology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil
11. Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-903, Brazil
12. BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil