Results 61 to 70 of about 5,176,506 (186)
The FEBS Journal, EarlyView.Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley +1 more source
The structure of cerebrosides in Gaucher's disease*
Journal of Lipid Research, 1960 Crystalline cerebrosides were isolated from the spleen of a woman with Gaucher's disease. The cerebrosides accounted for 38 per cent of the total spleen lipids and 0.89 per cent of the fresh spleen.
G.V. Marinetti, T. Ford, Elmer Stotz
doaj +1 more source
Histopathology, EarlyView.This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow +3 more
wiley +1 more source
Perinatal-lethal Gaucher disease presenting as hydrops fetalis
The Pan African Medical Journal, 2015 Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida +8 more
doaj +1 more source
Lipids of the spleen in Gaucher's disease
Journal of Lipid Research, 1965 Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher's disease. Four non-Gaucher spleens were also analyzed.
William D. Suomi, Bernard W. Agranoff
doaj +1 more source
ICSH Guidance on Bone Marrow Examination and Reporting
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber +6 more
wiley +1 more source
Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
doaj +1 more source
Medicine and pharmacy reports, 2021 Gaucher disease is a lysosomal storage disease affecting the bone marrow, spleen, liver, and nervous system. In Romania we follow up over 70 adult patients with Gaucher disease, who benefit from fully covered therapy. There is a need to screen for Gaucher disease, to diagnose early the condition and to use the best available therapy.
openaire +2 more sources
Randomized, controlled trial of miglustat in Gaucher's disease type 3
, 2008 Randomized, controlled trial of miglustat in Gaucher's disease type
C Harris (7774628) +10 more
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Beta-Glucosidase Activity as a Diagnostic Index of Gaucher's Disease [PDF]
, 2018 Gaucher's disease is a disorder characterised by accumulation of glucocerebroside in the cells of the reticuloendothelial system due to the deficit of β-glucosidase.
Losman, MJ
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