Results 141 to 150 of about 29,070 (238)

GAUCHER'S DISEASE IN BONE [PDF]

The Journal of Bone and Joint Surgery. British volume, 1952
openaire   +2 more sources

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

Idiopathic osteonecrosis of the mandible in a 49 healthy male patient: a rare and interesting case report [PDF]

, 2019
Campisi, Giuseppina, Canepa, Federica, Di Fede, Olga, Dioguardi, Mario, Mauceri, Rodolfo, Panzarella, Vera   +5 more
core   +1 more source

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +1 more source

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]

J Cell Biochem
Corazolla EM, Schomakers BV, Trętowicz MM, Hermans J, van Weeghel M, Vaz FM, Pras-Raves ML, Vlugt KG, Beers-Stet FS, Goorden SMI, Jansen-Meijer J, Janssens GE, Hollak CEM, Houtkooper RH, van Kuilenburg ABP.   +14 more
europepmc   +1 more source

Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective. [PDF]

Mol Genet Metab Rep
Elahimanesh M, Ganjali R, Najafi M.
europepmc   +1 more source

Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease. [PDF]

Hum Mutat
Ren S, Du M, Liu J, Li B, Liu J, Lang X.
europepmc   +1 more source

Serum hepcidin as a biomarker of treatment response in Gaucher disease. [PDF]

Mol Genet Metab Rep
Koppe T, Pinheiro FC, Siebert M, Basgalupp S, Daudt LE, Schwartz IVD.   +5 more
europepmc   +1 more source