Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic <i>GBA1</i> variants: a case report. [PDF]
Front NeurosciSun Y, Ni R, Yu Y.
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Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]
NeurologyAlcalay RN +7 more
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Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy. [PDF]
MoleculesChen J +6 more
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Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease. [PDF]
Int J Mol SciCarubbi F, Linari S, Spada M.
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GAUCHER'S DISEASE IN BONE [PDF]
The Journal of Bone and Joint Surgery. British volume, 1952 openaire +2 more sources
Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters. [PDF]
MetabolitesD'Amore S +3 more
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Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up. [PDF]
Am J Case RepMuras-Szwedziak K +4 more
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Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. [PDF]
Orphanet J Rare DisVinci M +12 more
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persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis. [PDF]
Orphanet J Rare DisMangum SL +4 more
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From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. [PDF]
Int J Mol SciCasazza K, Kartha RV, Jarnes JR.
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