Results 131 to 140 of about 28,810 (212)

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

A new glucocerebrosidase chaperone reduces α-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with gaucher disease and parkinsonism [PDF]

, 2016
et al,, Fujiwara, Hideji, Ory, Daniel S, Sidhu, Rohini   +3 more
core   +1 more source

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters. [PDF]

Metabolites
D'Amore S, Patel S, Cooke J, Ramaswami U.   +3 more
europepmc   +1 more source

Gaucher's Disease. Splenectomy [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +5 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

Gaucher disease: Enfermedad de gaucher

, 2018
Gaucher's disease (GD), an autosomal recessive disease, is the most frequent of the group of lysosomal storage diseases. The symptoms and signs are multisystemic, are established chronically and progressively and are due to the accumulation of glucocerebrosides in the bone marrow, spleen, liver, lungs, skeletal tissue and in the brain.
openaire   +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

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