Results 41 to 50 of about 10,573,620 (195)
Gaucher's disease: Report of a case
Siriraj Medical Journal, 2023 The first adult case of Gaucher's disease in Thailand was reported. The diagnosis was based on hepatosplenomegaly and Gaucher's cells in the bone marrow without any evidence of leukaemia.
Vicharn Panich +2 more
doaj
Journal of Clinical and Experimental Hepatology, 2014 Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms.
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule +4 more
wiley +1 more source
Splenic lipids in Gaucher's disease
Journal of Lipid Research, 1968 Column chromatography (on cellulose, silicic acid, and Florisil) and thin-layer chromatography were employed for the separation and purification of lipid fractions from normal and Gaucher spleens.
N.G. Kennaway, L.I. Woolf
doaj +1 more source
Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria
Nature Communications, 2023 β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy ...
Andrés D. Klein, Tiago Fleming Outeiro
doaj +1 more source
Failure of treatment of Coxa Vara in Gauchers Disease: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2012 Gaucher’s disease (GD) is an autosomal recessive storage disorder which occurs due to the deficient functioning of the lysosomal hydrolase enzyme [1, 2]. In this case report, coxa vara occurred after the union of a stress fracture in the basicervical
Sachin Khullar +3 more
doaj
Journal of Lipid Research, 1987 The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined.
T Tokoro, A E Gal, L L Gallo, R O Brady
doaj +1 more source
PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]
Romanian Journal of Pediatrics, 2009 This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
doaj +1 more source
Avascular necrosis of the first metatarsal head in adolescence: A case report
La Pediatria Medica e Chirurgica, 2022 Avascular necrosis (AVN) of the first metatarsal (MTT) head is an uncommon condition and it occurs most often as a complication after capital osteotomy in correction of hallux valgus deformity.
Valentina Luppi +4 more
doaj +1 more source
Movement Disorders, 2012 Heterozygous loss‐of‐function mutations in the acid beta‐glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD).
R. Durán +17 more
semanticscholar +1 more source