Ding, J-H.

patient sialic acid sialic disease glucosidase knockout muscle storage knockout mice fi ve patients mutation slc 17a gene glycogen mouse disorder ataxia cafsa tissue cerebellar ataxia model cerebellar erasmus university rotterdam gsdii urine brain salla metabolism activity heart protein lysosomal analysis cafsa patients control resonance spectroscopy study table wild-type level salla disease k 136e mutation 6 weeks knockout mouse nerve body fl uids abnormality proton resonance university glucosidase activity neu 5ac spectroscopy matter sialic acid metabolism elevation 13 weeks genetic salla patients institute mochel neuropathy animal genet transferrin cassette engelke figure mouse model error value cerebrospinal fl uid gaa gene epimerase method sural nerve biopsy lysosomal glycogen storage acid maltase deficiency glycogenosi syndrome quail