PMC Articles for MedGen (Select 90998) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 75698921.

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, Federica Raudino

Int J Neonatal Screen. 2020 Sep; 6(3): 58. Published online 2020 Jul 28. doi: 10.3390/ijns6030058

PMCID:: PMC7569892

Article PDF–236K

Select item 74230112.

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher

Int J Neonatal Screen. 2020 Jun; 6(2): 41. Published online 2020 May 26. doi: 10.3390/ijns6020041

PMCID:: PMC7423011

Article PDF–220K

Select item 73895363.

中、短链酰基辅酶A脱氢酶缺乏症患儿临床特点分析及基因突变研究

谭建强, 陈大宇, 李哲涛, 黄际卫, 严提珍, 蔡稔

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Oct 15; 18(10): 1019–1025. Chinese. doi: 10.7499/j.issn.1008-8830.2016.10.021

PMCID:: PMC7389536

Article PDF–1.8M

Select item 71594644.

Pathologic characterization of short‐chain acyl‐CoA dehydrogenase deficiency in BALB/cByJ mice

Dawna L. Armstrong, Michael L. Masiowski, Philip A. Wood

Am J Med Genet. 1993 Nov 1; 47(6): 884–892. Published online 2005 Jun 3. doi: 10.1002/ajmg.1320470616

PMCID:: PMC7159464

Article PDF–1.5M

Select item 51777105.

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

Korean J Pediatr. 2016 Nov; 59(Suppl 1): S45–S48. Published online 2016 Nov 30. doi: 10.3345/kjp.2016.59.11.S45

PMCID:: PMC5177710

Article PDF–651K

Select item 47723076.

Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver

Sujoy Ghosh, Claudia Kruger, Shawna Wicks, Jacob Simon, K. Ganesh Kumar, William D. Johnson, Randall L. Mynatt, Robert C. Noland, Brenda K. Richards

Nutr Metab (Lond) 2016; 13: 17. Published online 2016 Mar 1. doi: 10.1186/s12986-016-0075-0

PMCID:: PMC4772307

Article PDF–2.7M

Select item 44701027.

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

Barbka Repic Lampret, Simona Murko, Marusa Debeljak, Mojca Zerjav Tansek, Petja Fister, Tadej Battelino

Biochem Med (Zagreb) 2015 Jun; 25(2): 279–284. Published online 2015 Jun 5. doi: 10.11613/BM.2015.029

PMCID:: PMC4470102

Article PDF–328K

Select item 31629568.

A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis

G. Shilpa Reddy, M. Sujatha

Indian J Clin Biochem. 2011 Jul; 26(3): 312–315. Published online 2011 Jun 8. doi: 10.1007/s12291-011-0139-x

PMCID:: PMC3162956

Article PDF–170K

Select item 30699659.

Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants

Zarazuela Zolkipli, Christina B. Pedersen, Anne-Marie Lamhonwah, Niels Gregersen, Ingrid Tein

PLoS One. 2011; 6(4): e17534. Published online 2011 Apr 1. doi: 10.1371/journal.pone.0017534

PMCID:: PMC3069965

Article PDF–730K

Select item 294654510.

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Bianca T. van Maldegem, Ronald J. A. Wanders, Frits A. Wijburg

J Inherit Metab Dis. 2010; 33(5): 507–511. Published online 2010 Apr 29. doi: 10.1007/s10545-010-9080-z

PMCID:: PMC2946545

Article PDF–127K

Select item 1099102711.

Spontaneous Coronary Artery Dissection (SCAD) from an Interventionalist Perspective

Nichole Brunton, Patricia J. M. Best, Kimberly A. Skelding, Emily E. Cendrowski

Curr Cardiol Rep. 2024; 26(3): 91–96. Published online 2024 Jan 18. doi: 10.1007/s11886-023-02019-w

PMCID:: PMC10991027

Article PDF–623K

Select item 1094596712.

Spontaneous coronary artery dissection (SCAD) and takotsubo cardiomyopathy (TCM) - A potential association

Mohsin Sheraz Mughal, Hasan M. Mirza, Amit Bansal, Xia Weiyi, Waqar Arshad Mughal, Saba Ahmed, Alon Yarkoni, Fahad Waqar, Najam Wasty, Sergio Waxman, Haris Usman, Mehboob Alam, Afzal Rehman

Am Heart J Plus. 2024 Jan; 37: 100347. Published online 2023 Nov 24. doi: 10.1016/j.ahjo.2023.100347