Results 41 to 50 of about 198,582 (348)
The Journal of Applied Laboratory Medicine, 2020 BACKGROUND The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory.
Lisa A. Ford +10 more
semanticscholar +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
doaj +1 more source
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
doaj +1 more source
Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source
Novel MTO1 mutations associated with an intrafamilial phenotypic variability
Egyptian Journal of Medical Human Genetics, 2023 Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochondrial disorder,
Catarina Maria Almeida +4 more
doaj +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Inborn errors in the metabolism of glutathione [PDF]
Orphanet Journal of Rare Diseases, 2007 Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Ellinor Ristoff, Agne Larsson
openaire +4 more sources
Compounded drugs as an alternative to the therapeutical gaps of inborn errors of metabolism [PDF]
, 2023 Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer with complications. Therefore, compounded drugs might be a promising option given that they have the ability of meeting the ...
Adrielle da Silva Fachini +8 more
core +1 more source
An Approach to Neurometabolic Epilepsy in Children with an Underlying [PDF]
, 2020 ObjectiveAlthough in born errors of metabolism are rare, but total prevalence is . approximately 40-60% of IEM (inborn errors of metabolism)may present with epilepsy as one of the main clinical presentations and substantial number of them have specific ...
Habibi, Parinaz, Karimzadeh, Parvaneh
core +2 more sources
Gene Therapy for Inborn Errors of Metabolism [PDF]
, 2013 Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors ...
Pastore, Nunzia
core +1 more source