Results 21 to 30 of about 62,038 (258)

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

open access: yes, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C.   +4 more
core   +1 more source

Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches

open access: yesScientific Reports, 2017
Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes   +4 more
doaj   +1 more source

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

open access: yesMedicina, 2021
Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik   +2 more
doaj   +1 more source

Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris

open access: yesUniversitas 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

Inborn errors of metabolite repair [PDF]

open access: yesJournal of Inherited Metabolic Disease, 2019
AbstractIt is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct.
Veiga‐da‐Cunha, Maria   +2 more
openaire   +3 more sources

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

open access: yesBMC 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
doaj   +1 more source

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

open access: yesEndocrinology, 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

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

open access: yes, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima   +18 more
core  

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

open access: yesJournal 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
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]

open access: yes, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina   +3 more
core   +5 more sources

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