Results 31 to 40 of about 2,332 (156)
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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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
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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
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Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease
American Journal of Hematology, EarlyView.ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain +10 more
wiley +1 more source
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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Gaucher Disease and the Synucleinopathies [PDF]
BioMed Research International, 2006 Several recent observations suggest a connection between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies. Rare patients have been observed who develop both Gaucher disease and parkinsonism. Autopsy studies on these subjects reveal synuclein‐positive Lewy bodies and inclusions.
Hruska, Kathleen S. +2 more
openaire +2 more sources
The Canadian Journal of Chemical Engineering, EarlyView.Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía +3 more
wiley +1 more source
A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders
Clinical Pharmacology &Therapeutics, EarlyView.Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel +3 more
wiley +1 more source
Journal of Obstetrics and Gynaecology, 2009 Gaucher disease (GD) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal β-glucocerebrosidase and subsequent accumulation of glucosylceramide (GlcCer) in cells of the reticuloen...
A M, Mamopoulos +3 more
openaire +2 more sources