Results 121 to 130 of about 29,070 (238)

Enfermedad de Gaucher [PDF]

, 2015
La Enfermedad de Gaucher (EG) pertenece al grupo de las Enfermedades por Depósito Lisosomal (EDL), en las que existe un error en el metabolismo celular, de modo que hay déficit o se presenta un trastorno funcional de la enzima Glucocerebrosidasa.Como ...
Eusebio Ponce, Emiliana, García Frade, Luis Javier   +1 more
core   +1 more source

Women with Gaucher Disease

Biomedicines
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche
Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa   +10 more
openaire   +12 more sources

Necrosis avascular de cabeza femoral en pacientes con enfermedad de Gaucher tipo I : tratamiento mediante artroplastia total de cadera no cementada [PDF]

, 2017
El 80% de los pacientes con enfermedad de Gaucher presentan manifestaciones óseas, siendo la necrosis avascular de la cabeza femoral una de las que mayor limitación produce y la primera causa de intervención quirúrgica osteoarticular.
Blas Dobón, J.A., López Vega, Marcos, Pelayo de Tomás, José Manuel, Rodrigo Pérez, José Luís, Valero Fabado, H.   +4 more
core  

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

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 Disease

Medicine, 1995
D, Balicki, E, Beutler
openaire   +2 more sources

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

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  

Gaucher's Disease [PDF]

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

Inheritance in Gaucher's Disease [PDF]

BMJ, 1964
H, GERKEN, E, GRAUCOB, H R, WIEDEMANN
openaire   +2 more sources