WilliamJBruckerIIIMD

PubMed

• 19 citations
  Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
  Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzysciak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Rene...> ;Annals of Neurology. 2021 Oct 26
• 12 citations
  An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
  William J. Brucker, Stacy E. Croteau, John R. Prensner, Kate Cullion, Matthew M. Heeney, Jeffrey Lo, James B. Mcalvin, Katherine R. Peeler, Nidhi Shah, Christina S.K. ...> ;Journal of Inherited Metabolic Disease. 2020 Feb 27
• 3 citations
  A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
  Alissa M. D'Gama, William J. Brucker, Tian Zhang, Cynthia S. Gubbels, Sacha Ferdinandusse, Jiahai Shi, Patricia Ellen Grant, Grace E. VanNoy, Casie A. Genetti, Jane Ju...> ;American Journal of Medical Genetics. Part A. 2020 Apr 1
• 21 citations
  Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine
  Didem Demirbas, William J. Brucker, Gerard T. Berry> ;Pediatric Clinics of North America. 2018 Apr 1
• 78 citations
  Proteomic analysis of an alpha7 nicotinic acetylcholine receptor interactome.
  Joao A. Paulo, William J. Brucker, Edward Hawrot> ;Journal of Proteome Research. 2009 Apr 1
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