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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.
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Koto Y, Sakai N, Lee Y, Kakee N, Matsuda J, Tsuboi K, Shimozawa N, Okuyama T, Nakamura K, Narita A, Kobayashi H, Uehara R, Nakamura Y, Kato K, Eto Y. Koto Y, et al. Mol Genet Metab. 2021 Jul;133(3):277-288. doi: 10.1016/j.ymgme.2021.05.004. Epub 2021 May 12. Mol Genet Metab. 2021. PMID: 34090759
In particular, the high prevalence of mucopolysaccharidosis II and Gaucher disease type II was a feature characteristic of Japan. CONCLUSION: We estimated the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. ...
In particular, the high prevalence of mucopolysaccharidosis II and Gaucher disease type II was a feature charact …
Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.
Sharpe LR, Ancliff P, Amrolia P, Gilmour KC, Vellodi A. Sharpe LR, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S107-10. doi: 10.1007/s10545-009-1091-2. Epub 2009 Mar 11. J Inherit Metab Dis. 2009. PMID: 19267217
The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lys …
The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type …
Molecular diagnosis of Gaucher disease type II.
Tsai FJ, Chen HW, Peng CT, Tsai CH, Hwu WL, Wang TR, Liu SC. Tsai FJ, et al. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Sep-Oct;36(5):346-50. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995. PMID: 8607360
Abnormal vertical optokinetic nystagmus in infants and children.
Garbutt S, Harris CM. Garbutt S, et al. Br J Ophthalmol. 2000 May;84(5):451-5. doi: 10.1136/bjo.84.5.451. Br J Ophthalmol. 2000. PMID: 10781506 Free PMC article.
Nine of the children with an up and/or down vertical saccade initiation failure (VSIF) had a neurometabolic disease (two had Niemann-Pick disease type C, five had Gaucher disease type III, one had Gaucher disease type II, and one had Gaucher disease ty …
Nine of the children with an up and/or down vertical saccade initiation failure (VSIF) had a neurometabolic disease (two had Niemann-Pick di …