Results 191 to 200 of about 9,391,147 (295)

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

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease [PDF]

, 2019
Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Aya Abramov, Ari Zimran, Shoshana Revel‐Vilk   +10 more
openalex   +1 more source

Recent advances in the diagnosis and management of Gaucher disease

Expert Review of Endocrinology & Metabolism, 2018
Sam E. Gary, Emory Ryan, A. Steward, E. Sidransky   +3 more
semanticscholar   +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

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades [PDF]

, 2019
Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl‐Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz   +6 more
openalex   +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

Quantification of Bone Involvement in Gaucher Disease: MR Imaging Bone Marrow Burden Score as an Alternative to Dixon Quantitative Chemical Shift MR Imaging—Initial Experience

, 2003
Mario Maas, Cornelis van Kuijk, Jaap Stoker, Carla E. M. Hollak, Erik M. Akkerman, Johannes M. F. G. Aerts, Gerard J. den Heeten   +6 more
openalex   +2 more sources

Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3. [PDF]

Ann Med Surg (Lond)
Saif M, Nasir A, Shafique S, Fatima M, Talha M.   +4 more
europepmc   +1 more source

Gaucher's disease associated with portal hypertension and retinitis pigmentosa; a case report and literature review

, 2002
Çetin KARACA, Gülistan BAHAT, Kadir Demir, Filiz Akyüz, Ahmet DANALIOĞLU, Fatih BEŞIŞIK, Yılmaz ÇAKALOĞLU, Uğur ÇEVİKBAŞ, Atilla ÖKTEN   +8 more
openalex   +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