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A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

Iacono, S; Del Giudice, E; Leon, A; La Bella, V; Spataro, R

La Bella, V (通讯作者),Univ Palermo, P Giaccone Univ Hosp, ALS Clin Res Ctr, Via Gaetano La Loggia 1, I-90129 Palermo, Italy.;La Bella, V (通讯作者),Univ Palermo, Dept Biomed Neurosci & Adv Diagnost BIND, Via Gaetano La Loggia 1, I-90129 Palermo, Italy.

NEUROGENETICS, 2022; 23 (2): 157

Abstract

Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of ......

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