Results 61 to 70 of about 3,868 (214)

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

Glutaryl-CoA dehydrogenase misfolding in glutaric acidemia type 1 [PDF]

, 2023
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso, Madalena, Danecka, Marta K., Gersting, Søren W., Gertzen, Marcus, Muntau, Ania C., Preisler, Heike, Puchwein-Schwepcke, Alexandra F., Reiss, Dunja D., Sturm, Andreas   +8 more
core   +1 more source

Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration

International Journal of Neonatal Screening, 2020
In 2015, the newborn screening (NBS) programmes in England and Wales were expanded to include four additional disorders: Classical Homocystinuria, Isovaleric Acidemia, Glutaric Aciduria Type 1 and Maple Syrup Urine Disease, bringing the total number of ...
Rachel S. Carling, Catharine John, Philippa Goddard, Caroline Griffith, Simon Cowen, Christopher Hopley, Stuart J. Moat   +6 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

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]

, 2017
open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.

core   +1 more source

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core   +1 more source

Characterization of yeast genes homologous to human genes involved in mitochondrial and peroxisomal function [PDF]

, 2005
Poster da comunicação apresentada no "Congresso Nacional de Microbiologia e Biotecnologia (Micro’05-Biotec’05)", na Póvoa de Varzim, Portugal, em 2005.The Saccharomyces cerevisiae genes YPR004c, YGR207c, YOR356w and YDR036c homologous to human genes ...
Oliveira, Rui Pedro Soares de, Rodrigues, Aurora, Vasconcelos, Filipe   +2 more
core  

Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte [PDF]

, 2016
Taust. 1993. aastast alates on Eestis vastsündinuid sõeluuritud fenüülketonuuria ja 1996. aastast alates kaasasündinud hüpotüreoosi suhtes. Enamikus arenenud riikides kasutatakse vastsündinute sõeltestimisel tandem-mass-spektromeetriat, mis võimaldab ...
Ilo, Ursula, Kriisa, Annika, Künnapas, Kadi, Muru, Kai, Reinson, Karit, Vals, Mari-Anne, Õunap, Katrin   +6 more
core   +2 more sources

3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells

Neurobiology of Disease, 2004
Glutaric aciduria type I (GA I) is an autosomal recessive inherited metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCD) resulting in the accumulation of 3-hydroxyglutaric acid (3OHG), glutaric acid and glutaconic acid in body ...
F Freudenberg, Z Lukacs, K Ullrich
doaj   +1 more source

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

JIMD Reports, 2022
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner   +19 more
doaj   +1 more source