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. 2022 Jan;64(1):e14873.
doi: 10.1111/ped.14873. Epub 2021 Nov 30.

An infant with type II Gaucher disease treated with enzyme replacement therapy

Go Ebihara  1 , Yuki Matsushita  1 , Makiko Kirino  1 , Shunji Hikino  1 , Kazuo Sato  1
Affiliations

An infant with type II Gaucher disease treated with enzyme replacement therapy

Go Ebihara et al. Pediatr Int. 2022 Jan.
No abstract available

Keywords: L483R; enzyme replacement therapy; quality of life; type II Gaucher disease.

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References

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    1. Vellodi A, Tylki-Szymanska A, Davies EH et al. Management of neuronopathic Gaucher disease: Revised recommendations. J. Inherit. Metab. Dis. 2009; 32: 660-4.
    1. Saranjam H, Chopra SS, Levy H et al. A germline or de novo mutation in two families with Gaucher disease: Implications for recessive disorders. Eur. J. Hum. Genet. 2013; 21(1): 115-7.
    1. Uchiyama A, Tomatsu S, Kondo N et al. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum. Mol. Genet. 1994; 3(7): 1183-4.

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