Selected Publications

Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu T.: Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. Molecular Genetics and Metabolism May 2024.

Wongkittichote P, Cho S, Miller A, King K, Herbst ZM, Ren Z, Gelb MH, Hong X. : UPLC-MS/MS Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis. Clin Chem April 2024.

Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X, Ganetzky RD.: Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy. J Appl Lab Med 9: 404-407, Mar 2024.

Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC.: A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. Mol Genet Metab February 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.

Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M.: Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. Mol Genet Metab 140: 107682, Aug 2023.

Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R.: Pilot study of newborn screening for six lysosomal diseases in Brazil. Mol Genet Metab Jul 2023.

Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT.: Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix. Genome Biol 24: 172, Jul 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.

Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH.: Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. Mol Genet Metab Jun 2023.