PMC Links for Books (Select 2580244) - PMC - NCBI

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Items: 5

Select item 48160311.

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation

Rodolfo Tonin, Anna Caciotti, Silvia Funghini, Elisabetta Pasquini, Sean D. Mooney, Binghuang Cai, Elena Proncopio, Maria Alice Donati, Federico Baronio, Ilaria Bettocchi, Alessandra Cassio, Giacomo Biasucci, Andrea Bordugo, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone

BBA Clin. 2016 Jun; 5: 114–119. Published online 2016 Mar 10. doi: 10.1016/j.bbacli.2016.03.004

PMCID:: PMC4816031

Article PDF–666K

Select item 42046432.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

S.E. Waisbren, H.L. Levy, M. Noble, D. Matern, N. Gregersen, K. Pasley, D. Marsden

Mol Genet Metab. Author manuscript; available in PMC 2014 Oct 21.

Published in final edited form as: Mol Genet Metab. 2008 Sep-Oct; 95(0): 39–45. Published online 2008 Aug 3. doi: 10.1016/j.ymgme.2008.06.002

PMCID:: PMC4204643

Article PDF–202K

Select item 29465453.

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 27205454.

Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Reena Jethva, Michael J. Bennett, Jerry Vockley

Mol Genet Metab. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Mol Genet Metab. 2008 Dec; 95(4): 195–200. Published online 2008 Nov 5. doi: 10.1016/j.ymgme.2008.09.007

PMCID:: PMC2720545

Article PDF–61K

Select item 4243685.

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

B A Amendt, C Greene, L Sweetman, J Cloherty, V Shih, A Moon, L Teel, W J Rhead

J Clin Invest. 1987 May; 79(5): 1303–1309. doi: 10.1172/JCI112953

PMCID:: PMC424368

Summary Page Browse PDF–1.3M

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