Kristen Truxal

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design

Kristen Truxal, Haiyan Fu, Douglas M. McCarty et al. · Molecular Genetics and Metabolism · 2016 · 51 citations

Medicine, Pathology, Molecular Pathology +1

Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy

Haiyan Fu, Aaron S. Meadows, Ricardo Pineda et al. · Human Gene Therapy Clinical Development · 2017 · 43 citations · Full text

Medicine, Molecular Medicine, Pediatrics +11

Evaluation of biomarkers for Sanfilippo syndrome

Jennifer T. Saville, Kevin M. Flanigan, Kristen Truxal et al. · Molecular Genetics and Metabolism · 2019 · 21 citations

Medicine, Molecular Medicine, Molecular Diagnostics +7

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Sandra Whalen, Marie Shaw, Cyril Mignot et al. · European Journal of Human Genetics · 2021 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

Carolyn M. Wilhelm, Kristen Truxal, Kim L. McBride et al. · Molecular Genetics and Metabolism · 2018 · 12 citations · Full text

Medicine, Cardiology, Pathobiology +10