Results 31 to 40 of about 16,645,960 (212)

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

Journal of Medical Case Reports, 2018
Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase.
Meng Yang
doaj   +1 more source

A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage

Case Reports in Gastroenterology, 2013
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule.
Junitsu Ito, Takafumi Saito, Chikahiko Numakura, Akiko Iwaba, Shinpei Sugahara, Rika Ishii, Chikako Sato, Hiroaki Haga, Kazuo Okumoto, Yuko Nishise, Hisayoshi Watanabe, Hiroyuki Ida, Kiyoshi Hayasaka, Hitoshi Togashi, Sumio Kawata, Yoshiyuki Ueno   +15 more
doaj   +1 more source

Lentiviral vectors for gene therapy of Gaucher disease [PDF]

, 2015
Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core  

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously

Clinical Case Reports, 2018
Key Clinical Message Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals.
MSoledad Noya, Marcio Andrade‐Campos, Pilar Irun, Laura López de Frutos, MFernanda López‐Fernandez, Pilar Giraldo   +5 more
doaj   +1 more source

Seeing beyond Gaucher disease: Early detection and treatment of ocular complications

Indian Journal of Ophthalmology, 2023
Background: Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which impairs the body's ability to break down certain fats.
Padmaja K Rani, Dibya Prabha, Saumya Jakati, Rohan Nalawade   +3 more
doaj   +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola, Maija Saraste, Edoardo Pedrini, Joel Tuomaala, Luzia Buchholz, Markus Matilainen, Johanna Lindenberg, Eeva‐Christine Brockmann, Maria Sofia Martire, Sofia Sandgren, David Leppert, Jens Kuhle, Tanja Kuhlmann, Martina Absinta, Laura Airas   +14 more
wiley   +1 more source

Non-immune Hemolysis in Gaucher Disease and Review of the Literature Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, and Hagit Baris Feld

Rambam Maimonides Medical Journal, 2021
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to ...
Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, Hagit Baris Feldman   +4 more
doaj   +1 more source

Ferritin as a Nanoparticle Scaffold for Plant‐Produced Next‐Generation Subunit Vaccines

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Protein nanoparticles offer an innovative approach to next‐generation subunit vaccine development by displaying antigenic sequences on the nanoparticle surface. Compared to traditional subunit vaccines, protein nanoparticle vaccines often show improved interaction with the immune system due to their particulate size and repetitive epitope ...
Jordan T. VanderBurgt, Richard Strasser, Christopher P. Garnham, Rima Menassa   +3 more
wiley   +1 more source

Doença de gaucher em Santa Catarina - estudo de dez casos. [PDF]

, 2003
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Zilio, Roberto
core  

Syntheses and Properties of Pentafluoroethylplumbanes in the Oxidation States +II, +III, and +IV

Chemistry – A European Journal, EarlyView.
Syntheses of pentafluoroethyl substituted plumbanes in the formal oxidation states +II, +III, and +IV are reported. The compounds were characterized by multinuclear NMR spectroscopy, including 207Pb NMR spectroscopy, mass spectrometry and single‐crystal x‐ray diffraction experiments. ABSTRACT Mono‐, bis‐, and tris(pentafluoroethyl)plumbanes of the type
Michael Grasse, Lukas Hartmann, Beate Neumann, Hans‐Georg Stammler, Berthold Hoge   +4 more
wiley   +1 more source