Results 21 to 30 of about 39,677 (355)

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

Scientific 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, Carolina Cardona, Luisa Pimentel, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz   +4 more
doaj   +1 more source

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

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, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

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

, 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., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +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, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

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

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, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles   +4 more
doaj   +1 more source

Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
core   +1 more source

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

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, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience

Molecular Genetics and Metabolism Reports, 2021
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs.
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier   +9 more
doaj   +1 more source