Results 121 to 130 of about 28,810 (212)

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients [PDF]

, 2000
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase ...
Amaral, O., Desnick, R.J., Grace, M.E., Marcão, A., Sá Miranda, M.   +4 more
core  

Gaucher Disease

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

Mitochondrial dysfunction associated with glucocerebrosidase deficiency [PDF]

, 2016
The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder.
Gegg, ME, Schapira, AH
core  

Gaucher's Disease [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +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  

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: 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

Gaucher's Disease [PDF]

Proceedings of the Royal Society of Medicine, 1931
openaire   +2 more sources

Coinheritance of non‐deletional hemoglobin H disease with sickle cell trait

eJHaem
Veroniki Komninaka, Evangelia‐Eleni Ntelaki   +1 more
doaj   +1 more source