Results 101 to 110 of about 3,625 (203)
JIMD ReportsHereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi +9 more
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Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells [PDF]
, 2014 Heme biosynthesis begins in the mitochondrion with the formation of delta-aminolevulinic acid (ALA). In acute intermittent porphyria, hereditary tyrosinemia type I and lead poisoning patients, ALA is accumulated in plasma and in organs, especially the ...
C. Homedan +8 more
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MedicinaHereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises.
Rūta Rokaitė +4 more
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Bridging Paediatric Liver Diseases to Adult Care: What Does the Gastroenterologist Need to Know? [PDF]
European Medical Journal Gastroenterology, 2015 Advances in medical and surgical therapy mean that significant numbers of children with previously fatal liver disease are surviving into adult life. In particular, 80% of transplant recipients now survive for over 20 years.
Deirdre A. Kelly
doaj
Plant secondary metabolites as a model for drug development [PDF]
, 2018 Biljni sekundarni metaboliti su spojevi koji nisu nužni za rast i razvoj biljaka, ali im omogućavaju prilagodbu i preživljavanje u okolišu. Strukturna kompleksnost i raznolikost sekundarnih metabolita osigurala im je važnu ulogu u farmaceutskoj ...
Kufrin, Vida
core +2 more sources
New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
Novel role for amphiregulin in protection from liver injury [PDF]
, 2005 Clinically, the Fas and Fas ligand system plays a central role in the development of hepatocyte apoptosis, a process contributing to a broad spectrum of liver diseases.
Avila, M.A. (Matías Antonio) +7 more
core
Intrinsic differences between authentic and cryptic 5 ' splice sites [PDF]
, 2003 Cryptic splice sites are used only when use of a natural splice site is disrupted by mutation. To determine the features that distinguish authentic from cryptic 5' splice sites (5'ss), we systematically analyzed a set of 76 cryptic 5'ss derived from 46 ...
Roca, X. +2 more
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Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources
Engineering of triketone-insensitive human 4-hydroxyphenylpyruvate dioxygenase enzymes as basis to develop e new gene therapy for hereditary tyrosinemia type 1 [PDF]
, 2023 Jessie Neuckermans
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