Results 141 to 150 of about 15,263 (240)
Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease. [PDF]
Life (Basel)Lipiński P +11 more
europepmc +1 more source
Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]
Hum GenomicsKonarbayeva A +4 more
europepmc +1 more source
Skeletal Manifestations in Gaucher Disease: A Case Report
, 2005 Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes.
Rezzan Günaydın +5 more
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Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]
Mediterr J Hematol Infect DisCosta A +10 more
europepmc +1 more source
Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]
NeurologyAlcalay RN +7 more
europepmc +1 more source
Gaucher's Disease. Splenectomy [PDF]
Proceedings of the Royal Society of Medicine, 1932 openaire +5 more sources
Sphingolipids in Gaucher disease: a systematic review. [PDF]
Orphanet J Rare DisLake A, Fuller M.
europepmc +1 more source
Review: Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
, 2015 Gaucher disease (GD) is the most frequently encountered lysosomal storage disease causedby inborn defects of themembrane-bound lysosomal enzyme, acid b-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (
Tantawy, AAG
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GAUCHER'S DISEASE IN BONE [PDF]
The Journal of Bone and Joint Surgery. British volume, 1952 openaire +2 more sources