Author
University of MinnesotaORCID 0000-0001-9174-8919Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Troy C. Lund, Ryan H. Peretz, Patricia Dickson…·Lynda E. Polgreen
This study identifies metabolic differences between MPS IH and MPS IA patients treated with different therapies, highlighting potential biomarkers and therapeutic pathways.
Cecilie S. Videbæk, Danielle H.J. Kim, Hannah S. Hart…·Keith P. van Haren
The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.
Angela M. Martin Rios, Karolina M. Stępień, Liliane Gibbs…·Virginia E. Kimonis
The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.
Ezzat Hashemi, Isha N. Srivastava, Alejandro Aguirre…·Keith P. van Haren
This paper develops a novel mouse model of cerebral adrenoleukodystrophy (cALD) that replicates human disease features and highlights NLRP3 inflammasome activation in lesion pathogenesis.