Results 71 to 80 of about 3,274 (204)
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Journal of Pediatric Research, 2018 Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular
Havva Yazıcı +6 more
doaj +1 more source
iScience, 2020 Summary: Adeno-associated virus (AAV)-based vectors are considered efficient and safe gene delivery systems in gene therapy. We combined two guide RNA genes, Cas9, and a self-linearizing repair template in one vector (AIO-SL) to correct ...
Simon Alexander Krooss +17 more
doaj +1 more source
Accessing the genomic information of unculturable oceanic picoeukaryotes by combining multiple single cells [PDF]
, 2017 Mangot, Jean-François et al.-- 12 pages, 7 figures, 2 tables, supplementary information https://dx.doi.org/10.1038/srep41498Pico-sized eukaryotes play key roles in the functioning of marine ecosystems, but we still have a limited knowledge on their ...
Latorre, Fran +4 more
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Frontiers in Genetics, 2023 Aspergillus fumigatus is one of the most common pathogenic fungi, which results in high morbidity and mortality in immunocompromised patients. Amphotericin B (AMB) is used as the core drug for the treatment of triazole-resistant A. fumigatus.
Meng-Meng Chen +7 more
doaj +1 more source
Chimeric nucleases stimulate gene targeting in human cells [PDF]
, 2002 Gene targeting is a powerful technique to introduce genetic change into the genome of eukaryotic cells. It is widely used to create defined mutations in murine embryonic stem cells and theoretically could be used to create or repair mutations in ...
Baltimore, David, Porteus, Matthew
core +2 more sources
A proteinaceous organic matrix regulates carbonate mineral production in the marine teleost intestine [PDF]
, 2016 Marine teleost fish produce CaCO(3) in their intestine as part of their osmoregulatory strategy. This precipitation is critical for rehydration and survival of the largest vertebrate group on earth, yet the molecular mechanisms that regulate this ...
Adrian Pelin +6 more
core +2 more sources
Ibrain, 2023 Due to the existence of the blood–brain barrier in glioma, traditional drug therapy has a poor therapeutic outcome. Emerging immunotherapy has been shown to have satisfactory therapeutic effects in solid tumors, and it is clinically instructive to ...
Ji‐Yan Wang +6 more
doaj +1 more source
Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]
, 2018 We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James +8 more
core +3 more sources
Cancer Nexus, Volume 2, Issue 2, April 2026.ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han +5 more
wiley +1 more source