Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Fucosidosis Revisited:A Review of 77 Patients
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Brain Abnormalities in Infants with Fotter Syndrome (oligohydramnios tetrad)
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