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

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

Authors

Go Ebihara¹, Yuki Matsushita¹, Makiko Kirino¹, Shunji Hikino¹, Kazuo Sato¹

Affiliation

¹ Department of Pediatrics, Clinical Research Institute, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan.

PMID: 34847281
DOI: 10.1111/ped.14873

No abstract available

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

MeSH terms

Enzyme Replacement Therapy
Gaucher Disease* / drug therapy
Glucosylceramidase
Humans
Infant
Treatment Outcome

Substances

Glucosylceramidase