Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD.
Basgalupp SP, et al.
Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24.
Am J Med Genet A. 2021.
PMID: 34031990
Review.
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...A 2-month-old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. ...
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...A 2-m …