Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of Sulfatides and arylsulfatase a enzymatic activity in dried blood spots

Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, Heather A. Brown, Heather J. Church, Justin Gianares, Xinying Hong, Simon A. Jones, Tate Kappell, Francyne Kubaski, Petra Oliva, Joseph Orsini, Abdellah Tebani, Teresa H.Y. Wu, Gojko Lalic, Michael H. Gelb, Mol Genet Metab, 2025

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency.

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., Mol Ther. 32(11): 3829-3846, 2024

UPLC-MS/MS Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

Wongkittichote P, Cho S, Miller A, King K, Herbst ZM, Ren Z, Gelb MH, Hong X., Clin Chem 70(6): 865-877, 2024

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide

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., Mol Genet Metab 142(1): 108436, 2024

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency

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., Mol Genet Metab 141(2): 108116, 2024, PMID:38161139

Read article

Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options

Wongkittichote P, Pantano C, He M, Hong X, Demczko MM., JIMD Rep 65(2): 102-109, 2024, PMID:38444577

Read article

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

Herbst ZM, Hong X, Sadilek M, Fuller M, Gelb MH., Mol Genet Metab 140(3): , 2023, PMID:37820575

Read article

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH., Mol Genet Metab 140(1-2): , 2023, PMID:37407323

Read article

Pilot study of newborn screening for six lysosomal diseases in Brazil

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., Mol Genet Metab 140(1-2): 107654, 2023, PMID:37507255

Read article

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT., Genome Biol 24(1): 172, 2023, PMID:37480112

Read article