Results 11 to 20 of about 2,125,068 (305)

Inborn Errors of Metabolism

, 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.
Ezgu, FATİH SÜHEYL, Fatih Ezgu
openaire   +4 more sources

DDIEM - Drug Database for inborn errors of metabolism [PDF]

, 2020
DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology.
Marwa Abdelhakim (8295288), Allan Kamau (8337657), Robert Hoehndorf (38206), Dr Paul Schofield, Ali Raza Syed (8337654), Allan Kamau, Marwa Abdelhakim, Robert Hoehndorf, Senay Kafkas (6178748), Eunice McMurray (8337651), Dr Paul Schofield (8337660), Ali Raza Syed, Eunice McMurray, Senay Kafkas   +13 more
core   +8 more sources

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

, 2013
Contains fulltext : 118156.pdf (Publisher’s version ) (Open Access)Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion.
van Kessel Imke N, van Kessel, Imke N., Bosch Annet M, Bosch, Annet M., Korndewal Marjolein J, Meutgeert Hanka, Hollak, Carla E. M., Kessel, I.N. van, Bosch, A.M., Janssen, M.C.H., Morava, E., Marjolein J Korndewal, Imke N van Kessel, Serwet Demirdas, Demirdas, Serwet, Klaren, Anja, Spronsen, F.J. van, Anja Klaren, Hollak, C.E.M., Margreet van Rijn, Rijn, M. van de, Carla EM Hollak, van Rijn Margreet, Meutgeert, Hanka, van Rijn, Margreet, Hanka Meutgeert, van Spronsen Francjan J, Klaren, A., Meutgeert, H., Korndewal, Marjolein J., Korndewal, M.J., null null, Demirdas, S., Klaren Anja, Francjan J van Spronsen, Annet M Bosch, Hollak Carla EM, van Spronsen, Francjan J., et al., Demirdas Serwet   +39 more
core   +1 more source

Clinical-effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review [PDF]

, 2005
Objectives: The clinical- and cost-effectiveness of tandem mass spectrometry (MS)-based neonatal screening for inborn errors of metabolism (IEM) were ...
Beverley, C., Paisley, S., Chilcott, J., Pandor, A., Eastham, J.   +4 more
core   +5 more sources

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

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

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, Angela Rocío Mosquera, Edwin Alexander Rodríguez-López, Dennis Johana Díaz, Laura Milena Betrán, Francy Liliana Hernández, Carlos Javier Alméciga Díaz, Luis Alejandro Barrera   +7 more
doaj   +1 more source

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

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

Medicina, 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, Anita MacDonald, Jolanta Sykut-Cegielska   +2 more
doaj   +1 more source

Update on Neuropathies in Inborn Errors of Metabolism

, 2021
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk, Natalia Będkowska, Ewelina Mendela, Justyna Paprocka   +3 more
core   +1 more source