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Miao He, Ph.D

Miao He, Ph.D

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Assistant Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
The Children's Hospital of Philadelphia
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103
B.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
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Description of Clinical Expertise

1. Diagnosis of congenital disorder of glycosylation by complexed carbohydrate analysis

2. Genetic disorders in mitochondrial beta oxidation of fatty acids

3. Genetic disorders in cholesterol biogenesis

4. New biomarkers for lysosomal storage conditions

Description of Research Expertise

1. new genetic disorders in cholesterol biogenesis and their role in overproliferative inflammatory skin disorders

2. Glycomics Biomarkers for inherited metabolic diseases

Selected Publications

He M, Smith LD, Chang R, Li X, Vockley J.: The role of sterol-C4-methyl oxidase in epidermal biology. Biochim Biophys Acta. 1841(3): 331-335, Mar 2014.

Bobby G. Ng, Lynne A Wolf, Mie Ichikawa, Alexey M Eroshkin, Thomas Markello, Cynthis Tift, Miao He, William Gahl, Hudson H. Freeze: Mutations in CAD impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Molecular Genetics and Metabolism Mar 2014.

Mariska Davids, Megan S Kane, Taylor R. Davis, Charles J, Markello, Cornelius F Boerkoel, Miao He, William A, Gahl: Using multiple "-omics" in the understanding of the pathogenic mechanism of mutations in the calcium independent phospholipase(PLA2G6). Keystone symposia conference, Omics meets cell biology Taos, New Mexico, Feb 18-23, 2014 Feb 2014.

Megan S. Kane, Mariska Davids, Taylor R. Davis, Charles J Markello, Miao He, William A Gahl, Cornelius F Boerkoel: Glycomics, Genomics and Cell Biology in a study of Joubert Syndrome with OFD1 mutation. Keystone symposia, Omics meets cell biology Taos, New Mexico, Feb 18-23, 2014 Feb 2014.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F,Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M. : Sialylation of Thomsen-Friedenreichantigen is a noninvasive blood-based biomarker for GNE myopathy. Biomarkers in Medicine In press 2014.

Baoyun Xia, Wenyue Zhang, Xueli Li, Rong Jiang, Tisa Harper, Renpeng Liu, Richard D. Cummings, Miao He: Serum N-glycan and O-glycan Analysis By Mass Spectrometry For Diagnosis of Congenital Disorders of Glycosylation Analytical Biochemistry 442(2): 178-85, Nov 2013.

Fridovich-Keil J, Bean L, He M, Schroer R. Source GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2011 Jan 25 [updated 2013 Oct 24]. : Epimerase Deficiency Galactosemia. GeneReviews™ [Internet]. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. (eds.). Seattle (WA): University of Washington, Seattle; 1993-2013. Oct 24 2013 Notes: an update, every two years.

Al Khallaf HH, He M, Wittenauer A, Woolley EE, Cunto M, Pervaiz MA. : An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges. Indian Journal of Human Genetics 19(4): 483-6, Oct 2013.

Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M. : Oligosaccharide Analysis in Urine by MALDI-TOF Mass Spectrometry for the Diagnosis of Lysosomal Storage Diseases. clinical chemistry 59(9): 1357-68, Sept 2013.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR.: Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. Molecular Genetics in Metabolism 110(1-2): 78-85, Sept-Oct 2013.

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Last updated: 03/21/2014
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