Sandra Yang

Sandra Yang

UNVERIFIED PROFILE

Are you Sandra Yang?   Register this Author

Register author
Sandra Yang

Sandra Yang

Publications by authors named "Sandra Yang"

Are you Sandra Yang?   Register this Author

14Publications

246Reads

30Profile Views

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Bone 2020 Feb 6;131:115142. Epub 2019 Nov 6.

Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.115142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937522PMC
February 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Adverse Drug Event Prevention: 2014 Action Plan Conference.

Am J Med Qual 2016 09 29;31(5):476-85. Epub 2015 May 29.

US Department of Health and Human Services, Office of Disease Prevention and Health Promotion, Rockville, MD

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1062860615588105DOI Listing
September 2016

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Am J Med Genet A 2016 Mar 8;170(3):634-44. Epub 2015 Dec 8.

Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37468DOI Listing
March 2016

Racial and ethnic disparities in health care-associated Clostridium difficile infections in the United States: State of the science.

Am J Infect Control 2016 Jan 9;44(1):91-6. Epub 2015 Oct 9.

Office of Disease Prevention and Health Promotion, US Department of Health and Human Services, Rockville, MD.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajic.2015.08.007DOI Listing
January 2016

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.

Mol Genet Metab 2009 Aug 3;97(4):284-91. Epub 2009 May 3.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ont., Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.04.013DOI Listing
August 2009