Elevated holo‐ transcobalamin in Gaucher disease type II : A case report

Author:

Basgalupp Suelen Porto123ORCID,Donis Karina Carvalho4,Siebert Marina25,e Vairo Filippo Pinto67,Artigalas Osvaldo8,Camargo Pinto Louise L.9,Behringer Sidney10,Spiekerkoetter Ute10,Hannibal Luciana10ORCID,Schwartz Ida Vanessa D.12411

Affiliation:

1. Postgraduate Program in Medical Sciences School of Medicine, Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

2. Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA) Porto Alegre Brazil

3. Hospital Moinhos de Vento Porto Alegre Brazil

4. Medical Genetics Service Hospital de Clínicas de Porto Alegre (HCPA) Porto Alegre Brazil

5. Unit of Laboratorial Research, Experimental Research Center Hospital de Clínicas de Porto Alegre (HCPA) Porto Alegre Brazil

6. Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

7. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

8. Hospital da Criança Conceição, Grupo Hospitalar Conceição (GHC) Porto Alegre Brazil

9. Hospital Infantil Joana de Gusmão Florianópolis Brazil

10. Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine Medical Center, University of Freiburg Germany

11. Department of Genetics Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

Funder

Albert-Ludwigs-Universität Freiburg

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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