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. Aug 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 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 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: 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 Nov 2023.

Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A.: Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. Mol Genet Metab Sep 2023.

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.