Selected Publications

Pham V, Tricoli L, Hong X, Wongkittichote P, Castracani CC, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC. : Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency. Mol Ther. 32(11): 3829-3846, Nov 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 70(6): 865-877, June 2024.

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. Mol Genet Metab 142(1): 108436, May 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 141(2): 108116, Feb 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(2): 102-109, Jan 2024.

Herbst ZM, Hong X, Sadilek M, Fuller M, Gelb MH.: Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans. Mol Genet Metab 140(3), Nov 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 140(1-2), September–October 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 140(1-2): 107654, September–October 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(1): 172, Jul 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 Notes: no issue.