Results 71 to 80 of about 249,219 (350)

Enzyme replacement therapy for pancreatic insufficiency: present and future

open access: yesClinical and Experimental Gastroenterology, 2011
Aaron Fieker1, Jessica Philpott1, Martine Armand21Division of Digestive Diseases, University of Oklahoma, OKC, OK, USA; 2INSERM, U476 "Nutrition Humaine et Lipides", Marseille, F-13385 France; Univ Méditerranée Aix-
Fieker A, Philpott J, Arm, M
doaj  

An unusual presentation of neurononopathic gauchers disease. [PDF]

open access: yes, 2013
A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities.
Chand, Prem   +3 more
core   +1 more source

Insights into the pathogenesis of nicotine addiction. Could a salivary biosensor be useful in Nicotine Replacement Therapy (NRT)? [PDF]

open access: yes, 2019
Nicotine has gained the attention of the medical community due to its insidious addictive mechanisms which lead to chronic consumption. The multitude of compounds derived from tobacco smoke have local and systemic negative impacts, resulting in a large ...
Alexescu, Teodora G   +13 more
core   +2 more sources

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira   +14 more
wiley   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

open access: yesMolecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz   +4 more
doaj   +1 more source

Tumor‐agnostic detection of circulating tumor DNA in patients with advanced pancreatic cancer using targeted DNA methylation sequencing and cell‐free DNA fragmentomics

open access: yesMolecular Oncology, EarlyView.
We evaluated circulating tumor DNA (ctDNA) detection in advanced pancreatic cancer using DNA methylation, cell‐free DNA fragment lengths, and 5′ end motifs. Machine learning models were trained to estimate ctDNA levels from each feature and their combination.
Morten Lapin   +10 more
wiley   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

open access: yesMolecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici   +8 more
wiley   +1 more source

Early Enzyme Replacement Therapy Improves Hearing and Immune Defects in Adenosine Deaminase Deficient-Mice

open access: yesFrontiers in Immunology, 2019
Background: Inherited defects in adenosine deaminase (ADA) cause severe immune deficiency, which can be corrected by ADA enzyme replacement therapy (ERT). Additionally, ADA-deficient patients suffer from hearing impairment.
Xiaobai Xu   +13 more
doaj   +1 more source

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]

open access: yesPLoS ONE, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell   +7 more
doaj   +1 more source

Enzyme replacement therapy in a patient with hyperargininemia.

open access: yesThe Tohoku Journal of Experimental Medicine, 1987
In a patient with hyperargininemia, enzyme replacement therapy such as whole blood exchange transfusion or erythrocyte transfusion was performed, and its effect was confirmed in vitro as well as in vivo. The patient has been treated with the restriction of protein intake, oral administration of an essential amino acid mixture, and sodium benzoate or ...
Chiemi Hayakawa   +3 more
openaire   +3 more sources

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