Results 51 to 60 of about 48,814 (291)
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
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Advanced Healthcare Materials, EarlyView.A novel blood‐brain barrier‐penetrating terpolymer nanoparticle to deliver brain‐derived neurotrophic factor (BDNF) for the treatment of Alzheimer's disease (AD) is designed. The BDNF‐TPN significantly enhances BDNF accumulation in the brain following intravenous injection, reduces apoptosis and neuroinflammation, thus promoting neuronal survival and ...
Lily Yi Li +8 more
wiley +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
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BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
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Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai +2 more
openaire +3 more sources
Advanced Healthcare Materials, EarlyView.A simplified, co‐culture‐free protocol for kidney organoids that generate segmented nephrons, including collecting ducts, has been developed. Early low‐dose RA with FGF9 induces balanced anterior–posterior IM patterning and dual UE/MM lineage commitment. BMP7 enhances nephron progenitor maturation.
Jung Hwa Lim +13 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Bacterial cellulose has undergone a transformative journey from early applications to its role in advanced regenerative medicine. The review has a pedagogical ambition, offering clear pathways for future research and clinical adoption. Harmonizing regulatory standards and conducting larger, well‐designed clinical trials with standardized endpoints will
Thomas Meslier +3 more
wiley +1 more source
Recent Developments in the Management and Prognosis of Some Inborn Errors of Metabolism [PDF]
, 1967 G. M. Komrower
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Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Orphanet Journal of Rare Diseases, 2020 Background Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients.
Alice Brambilla +7 more
doaj +1 more source
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +4 more sources