Results 161 to 170 of about 9,391,147 (295)

Ambroxol effects in glucocerebrosidase and -synuclein transgenic mice [PDF]

, 2016
Objective. Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Bezard, E, Daly, L, Migdalska-Richards, A, Schapira, AHV   +3 more
core  

Author response: Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy

, 2022
Chandra Sekhar Boddupalli, Shiny Nair, Glenn S. Belinsky, Joseph Gans, Erin Teeple, Tri‐Hung Nguyen, Sameet Mehta, Lilu Guo, Martin Kramer, Jiapeng Ruan, Honggge Wang, Matt Davison, Dinesh Kumar, D. J. Vidyadhara, Bailin Zhang, K. Klinger, Pramod K. Mistry   +16 more
openalex   +1 more source

Correction: Exploratory survey study on adjunctive use of medical cannabis for Gaucher Disease (Rare Disease and Orphan Drugs Journal 2024; 10.20517/rdodj.2024.17) [PDF]

Yehoshua Berman, Robin J. Ely, Yosef Y. Scher, Neal J. Weinreb   +3 more
openalex   +1 more source

Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation [PDF]

, 2017
Naşit İğci, Parisa Sharafi, Duygu Özel Demiralp, Cemil Ozerk Demiralp, Aysel Yüce, Serap Dokmeci   +5 more
openalex   +1 more source

Editor's evaluation: Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy

, 2022
Mone Zaidi
openalex   +1 more source

Glucosylsphingosine affects mitochondrial function in a neuronal cell model

Communications Biology
Gaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko, Reddy Vootukuri, Simon Eaton, Jenny Hällqvist, Tomas Baldwin, Kevin Mills, Wendy Heywood   +6 more
doaj   +1 more source

Gaucher's Disease [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources

ORAL TREATMENT OF HEMOPHILIA [PDF]

, 2007
Disclosed herein is a simple method for the treatment of antigen-deficiency diseases, by orally administering to a subject a therapeutically effective amount of the deficient antigen, wherein the antigen is not present in a liposome.
Alpan, Oral, Kamala, Tirumalai, Matzinger, Polly, Velander, William Hugold   +3 more
core   +1 more source

Gaucher Disease: A First Reported Adult Case in Indonesia

Acta Medica Indonesiana
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio.
Ardhi Rahman Ahani, Cosphiadi Irawan, Agnes Stephanie Harahap, Klara Yuliarti, Maria Francisca Ham, Faramitha Nur Izzaty, Damayanti Rusli Sjarif   +6 more
doaj   +2 more sources

Pathology of Gaucher's disease.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974
A review of the pathology of t 2 cases of non-neuronopathic type Gaucher's disease, diagnosed  over a 38-year period, t 935 to 1973, is presented. One of these patients is described in detail and an unusual association with a splenic epidermoid cyst in an unaffected sibling is documented.
openaire   +3 more sources