Results 31 to 40 of about 57,504 (328)

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 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

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

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

A proposed nosology of inborn errors of metabolism

Genetics in Medicine, 2018
We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
C. Ferreira, C. V. van Karnebeek, J. Vockley, N. Blau   +3 more
semanticscholar   +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

Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence

Journal of Global Health, 2018
Background Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous disorders resulting from a defect in functioning of an intermediate metabolic pathway.
Donald Waters, D. Adeloye, Daisy Woolham, E. Wastnedge, Smruti K. Patel, I. Rudan   +5 more
semanticscholar   +1 more source

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

, 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, Kisinovsky, Isaac, Roa, Norma, Rozenfeld, Paula Adriana   +3 more
core   +5 more sources

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

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, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source