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Paper Details

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
35
2020
GALC, GALC variant, KD, Krabbe disease, NBS, PSY, Psychosine, d5, d5-PSY, erythrocytes, galactocerebrosidase, hematopoietic stem cell, infantile KD, methanol, patients, psychosine
Author NameAffiliation
Coleman T TurgeonMayo Clinic
Joanne KurtzbergDuke University Medical Center
Kimiyo RaymondMayo Clinic
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Release 1.2