Miao He, Ph.D
Adjunct Associate Professor of Pathology and Laboratory Medicine
Co-Laboratory Director, 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
Department of Pathology and Laboratory Medicine
34th & Civic Center Boulevard
Philadelphia, PA 19103
Email:
hem@email.chop.edu
hem@email.chop.edu
Education:
B.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
Permanent linkB.Sc. (Biochemistry)
Shanghai University of Science and Technology, 1993.
Ph.D. (Genetics)
University of Leeds, 1999.
Description of Clinical Expertise
1. Diagnoses of congenital disorders of glycosylation by complexed carbohydrate analysis2. 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 the roles of sterols in overproliferative inflammatory skin disorders2. Glycomic biomarkers for inherited metabolic diseases
Selected Publications
Rodrigo Tzovenos Starosta, Angela J. Lee1, Elizabeth R. Toolan, Miao He, Parith Wongkittichote, Earnest James Paul Daniel, Silvia Radenkovic, Rohit Budhraja, Akhilesh Pandey, Jaiprakash Sharma, Eva Morava, Hoanh Nguyen, Patricia I. Dickson: D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). SIMD 2024 annual meeting April 2024.Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M.: Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. J Inherit Metab Dis Apr 2024.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A.: A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight 9: e172509, Apr 2024.
Wongkittichote P, Pantano C, He M, Hong X, Demczko MM.: Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options. JIMD Rep 65: 102-109, Jan 2024.
Madan-Khetarpal S, He M, Wongkittichote P, Dobrowolski SF.: Congenital Disorder of Glycosylation in a Child with Macrosomia. Clin Chem 69: 1432-1434, Dec 2023.
Wong KN, Botto LD, He M, Baker PR 2nd, Vanderver AL, Bonkowsky JL.: Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurol Genet 9: e200101, Sep 2023.
Wongkittichote P, Ganetzky RD, Demczko MM, Hong X, He M, Master SR.: Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clin Chem 69: 661-664, Jun 2023.
Hong X, Pollard L, He M, Gelb MH, Wood TC.: Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III. Mol Genet Metab Rep 35: 100978, May 2023.
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M.: 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor. Mol Genet Metab April 2023.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.: Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. Mol Genet Metab April 2023.