Literature DB >> 21074171

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

Inderneel Sahai, Joyce C Bailey, Roger B Eaton, Thomas Zytkovicz, David J Harris.   

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Year:  2010        PMID： 21074171     DOI： 10.1016/j.jpeds.2010.09.026

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  5 in total

1.  The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.

Authors:  Bryony Ryder; Detlef Knoll; Donald R Love; Phillip Shepherd; Jennifer M Love; Peter W Reed; Mark de Hora; Dianne Webster; Emma Glamuzina; Callum Wilson
Journal:  J Inherit Metab Dis       Date:  2016-01-07       Impact factor: 4.982

2.  Fatty Acid oxidation disorders in a chinese population in taiwan.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Mei-Chyn Chao; Li-Chu Chen; Li-Hsin Chen; Chun-Ching Chien; Hui-Chen Ho; Jeng-Hung Suen; Wuh-Liang Hwu
Journal:  JIMD Rep       Date:  2013-05-23

3.  Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Authors:  Andrew C Edmondson; Jennifer Salant; Lynne A Ierardi-Curto; Can Ficicioglu
Journal:  JIMD Rep       Date:  2016-04-12

4.  Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

Authors:  Lindsay C Burrage; Marcus J Miller; Lee-Jun Wong; Adam D Kennedy; V Reid Sutton; Qin Sun; Sarah H Elsea; Brett H Graham
Journal:  J Pediatr       Date:  2015-11-18       Impact factor: 4.406

5.  Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Authors:  Amelie S Lotz-Havla; Wulf Röschinger; Katharina Schiergens; Katharina Singer; Daniela Karall; Vassiliki Konstantopoulou; Saskia B Wortmann; Esther M Maier
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123
  5 in total

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