共 50 条
- [2] A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family Neurological Sciences, 2018, 39 : 2123 - 2128
- [6] Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):
- [7] Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene JOURNAL OF DERMATOLOGY, 2013, 40 (09): : 758 - +