Results 61 to 70 of about 3,221 (198)

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

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters [PDF]

, 1995
Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the ...
Heuvel, C.M.M. (C. M M) van den, Huijmans, J.G.M. (Jan), Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Kraan, M. (M.) van der   +4 more
core   +1 more source

Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1. [PDF]

, 2016
زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود.
Badr, Zahra., Jazayeri, Ali., Salehi, Zivar., Vallian-Brojeni, Sadegh.   +3 more
core  

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo, Ba  os, Cremer, Crome, Daniel, Dhopeshwarkar, Dodd, G. E. Homanics, H. S. Paul, Hariharan, Hauber, Homanics, J. Lazovic, J. M. Flanagan, Jan, K. C. Cheng, K. F. LaNoue, K. Griffin, K. J. Skvorak, Kamei, Killian, Le Masurier, Lowry, Lo  , M. C. Bewley, Mackenzie, McKean, Morton, O'Callaghan, Ouary, Patel, Patel, Regunathan, Schadewaldt, Schmithorst, Schonberger, Sgaravatti, She, SILBERMAN, Simon, Tews, W. J. Zinnanti, Wajner, Williamson, Yudkoff   +44 more
core   +2 more sources

Multiple acyl-CoA dehydrogenase deficiency and population newborn screening:Connecting the dots [PDF]

, 2021
Multiple acyl-CoA dehydrogenase deficiency (MADD; also known as glutaric aciduria type II) is an ultra-rare inborn error of metabolism (IEM). The disorder is not included in the Dutch newborn blood spot (NBS) screening program due to a lack of evidence ...
van Rijt, Willemijn
core   +2 more sources

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Nuclear factor erythroid-2-related factor 2 signaling in the neuropathophysiology of inherited metabolic disorders [PDF]

, 2021
Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets ...
Grings, Mateus, Leipnitz, Guilhian, Saso, Luciano, Seminotti, Bianca, Tucci, Paolo   +4 more
core   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source