Results 21 to 30 of about 2,195 (134)
The Practicality of Family screening for Gaucher disease among first- and second-degree relatives: an effective diagnostic approach in high consanguinity [PDF]
Journal of Epigenetics, 2023 Gaucher Disease occurs more frequently in the offspring of familial marriages. With a wide variety of presentations, the long list of tests required to confirm GD in addition to those needed to rule out others puts a heavy financial burden on the ...
Majid Naderi +3 more
doaj +1 more source
Chemoenzymatic Synthesis of Well‐Defined α(2,8)‐ and α(2,9)‐Linked Oligosialosides
Angewandte Chemie, EarlyView.Well‐defined α(2,8)‐ and α(2,9)‐linked oligosialic acids of different lengths can be prepared by employing recombinant bacterial polysialyltransferases in combination with chemically modified CMP‐Neu5Ac derivatives. After transfer, a sialoside is formed bearing an artificial entity, which blocks further glycosylation.
Jelle A. Fok +4 more
wiley +2 more sources
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
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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
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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
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
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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
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Gaucher’s disease: orphan disease in pediatric practice
Лечащий Врач, 2021 Approaches to diagnostics and treatment of Gaucher’s disease in children were considered. A clinical case is given.
T. A. Bokova
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Gaucher's disease with myocardial involvement in pregnancy
São Paulo Medical Journal, 2002 CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of ...
Maria Regina Torloni +2 more
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Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)
Гений oртопедии, 2022 Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher
Lyudmila A. Semenova +2 more
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