Results 71 to 80 of about 16,645,960 (212)
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
, 2009 Neoproterozoic palaeoclimate in the Río de la Plata Craton (RPC) can be understood in terms of a warm, possibly tropical, “background” climate punctuated by several cold or even glacial events.
Gaucher, Claudio, Poire, Daniel Gustavo
core +1 more source
Stem Cell Research, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Ana Joana Duarte +5 more
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
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
Outcome of early-treated type III Gaucher disease patients
, 2017 Recombinant human acid beta-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is still controversial.
胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟 +1 more
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Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Sudden unexpected death in infancy (SUDI) remains poorly understood, and the potential contribution of air pollution exposure is largely unexplored. Given its known impact on infant health, air pollution may influence the risk of SUDI, particularly through short‐term effects.
Emmanuel Bourdet +9 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2014 A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was ...
Julie Harvengt +11 more
doaj +1 more source
, 2011 Avant-propos du volume d'études préparé par (/a c. di) Luca Pierdominici et Élisabeth Gaucher-Rémond, de l'Université de Nantes, en l'honneur du grand spécialiste du Moyen Age français Jean Dufournet, volume publié dans la collection "Piccola ...
É. Gaucher Rémond +1 more
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The connection between Gaucher disease and neurodegenerative diseases
, 2021 A literature review, investigating the commonalities between the rare, but treatable lysosomal storage disorder known as Gaucher disease (Type 1), and common, but terminal age-related neurodegenerative diseases; Alzheimer's disease and Parkinson's ...
Sadie, Bonita Lee-Ann
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