Literature DB >> 34850845

Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Hana Alharbi1,2,3, Michael J Bennett4, Miao He1, Stephen R Master1, Rebecca D Ganetzky2,5.   

Abstract

Entities:  

Keywords:  MCADD; hexanoylglycine; organic acids; plasma acylcarnitine; suberylglycine

Mesh：

Substances：

Year:  2021        PMID： 34850845      PMCID： PMC8634405          DOI： 10.1093/clinchem/hvab154

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


× No keyword cloud information.
  5 in total

1.  Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.

Authors:  M F Browning; C Larson; A Strauss; D L Marsden
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Authors:  Emily H Smith; Cheryl Thomas; David McHugh; Dimitar Gavrilov; Kimiyo Raymond; Piero Rinaldo; Silvia Tortorelli; Dietrich Matern; W Edward Highsmith; Devin Oglesbee
Journal:  Mol Genet Metab       Date:  2010-04-08       Impact factor: 4.797

3.  Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M J Bennett; P M Coates; D E Hale; D S Millington; R J Pollitt; P Rinaldo; C R Roe; K Tanaka
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

Authors:  Gwendolyn Gramer; Gisela Haege; Junmin Fang-Hoffmann; Georg F Hoffmann; Claus R Bartram; Katrin Hinderhofer; Peter Burgard; Martin Lindner
Journal:  JIMD Rep       Date:  2015-05-05

5.  Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

Authors:  P T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.