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Miao He, PhD

Assistant Director of the Metabolic Disease Laboratory

Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania


2013, Conference on Clinical Research for Rare Diseases (CCRRD) Meeting Travel Award, NIH Office of Rare Disease

2010, Conference on Clinical Research for Rare Diseases (CCRRD) Meeting Travel Award, NIH Office of Rare Disease

2010-2012, NIH Sterol and Isoprenoid Related Disease Consortium Career Development Award

2007, The Neil Buist Award For The Best Presentation at SIMD Annual Meeting

2006-2008, The SIMD/Ucycled fellowship award, Society of Inherited Metabolic Disorder

2004, Travel Award, Brain Uptake and Utilization of Faccty Acids-International Workshop

2003-2007, Young Investigator Awards, Society of Inherited Metabolic Disorders

1993, Chinese National Student Representative, Pan-Pacific International Leadershp Conference

1993, Natonal Model Student Award, P.R. China

1992 Young Scientist Award, Baogong Corporation Prize




He M, Matern D, Raymond KM, Wolfe L: The congenital disorders of glycosylation. Washington, DC: AACC Press Page: 177-197, 2012.


Memberships in professional organizations

American Society of Human Genetics
Society for Inherited Metabolic Disorders
American College of Human Genetics

New Media


He, M., Smith, L., Vockley, J.: SCRMOL Deficiency In: On-line Metabolic and Molecular Bases of Inherited Disorder. On-Line 2013. Available at:

Original Papers


Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH : Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics 2013. Read the abstract

Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M. (2013) Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem. 2013 Sep;59(9):1357-68. Read the abstract

Jones MA, Rhodenizer D, De Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner A, He M, Hegde MR (2013) Molecular Diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing. Mol Genet Metab Sept; 110(1-2):78. Read the abstract

Xia B, Zhang W, Li X, Jiang R, Harper T, Liu R, Cummings RD, He M. (2013) Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Anal Biochem. pii: S0003-2697(13)00355-2. doi: 10.1016/j.ab.2013.07.037. Read the abstract


Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR: DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. American Journal of Human Genetics 10(90 (2)): 363-8, Feb 2012. Read the abstract

Kalinina J, Carroll A, Wang L, Yu Q, Mancheno DE, Wu S, Liu F, Ahn J, He M, Mao H, Van Meir EG: Detection of "oncometabolite" 2-hydroxyglutarate by magnetic resonance analysis as a biomarker of IDH1/2 mutations in glioma. Journal of Molecular Medicine 17, Mar 2012. Read the abstract

Liu Y, Xia B, Gleason TJ, Castañeda U, He M, Berry JT, Fridovich-Keil JL: N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. 106: 442-54, May 2012. Read the abstract

He M, Matern D, Raymond KM, Wolfe L: The congenital disorders of glycosylation. AACC Press Page: 177-197, 2012.

Wolfe LA, Morava E, He M, Vockley J, Gibson KM: Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C(4): 322-8, Nov 2012. Read the abstract

Posters and Presentations


He M: Clinical Evaluation and Treatment of Patients with SC4MOL Deficiency, a New Disorder in Cholesterologenesis. SSIEM, Platform presentation, Breaking news and Hot topics session 2012.

He M: Discovery of an abnormal and unanticipated N-glycan biomarker for ALG1-CDG (CDG-Ik). ACMG Platform presentation 2012.

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