Samuel P Yang

Samuel P Yang

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Samuel P Yang

Samuel P Yang

Publications by authors named "Samuel P Yang"

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Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Mol Genet Metab 2019 Dec 30. Epub 2019 Dec 30.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, RC1-N P18-4404K, 12800 East 19th Avenue, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO 80045, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.12.013DOI Listing
December 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 04 2;120(4):342-349. Epub 2017 Feb 2.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382105PMC
April 2017

Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.

J Mol Diagn 2010 Sep 1;12(5):725-9. Epub 2010 Jul 1.

Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.090234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928439PMC
September 2010

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient.

Int Urol Nephrol 2007 10;39(3):941-6. Epub 2007 Feb 10.

Department of Paediatrics, University of California, Davis, 2516 Stockton Blvd., Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1007/s11255-006-9172-8DOI Listing
January 2008

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.

Biochem Biophys Res Commun 2006 Jan;339(3):755-60

Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, 10901 N Torrey Pines Road, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.bbrc.2005.11.073DOI Listing
January 2006

Multispecialty telephone and e-mail consultation for patients with developmental disabilities in rural California.

Telemed J E Health 2004 ;10(4):413-21

Department of Clinical Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1089/tmj.2004.10.413DOI Listing
March 2005