William B Rizzo, MD

  • 6004 Citations
  • 35 h-Index
1977 …2020

Research output per year

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Projects

Frontiers in Ichthyosis Research

Milstone, L. & Rizzo, W. B.

National Institutes of Health

4/1/103/31/11

Project: Research project

  • Research Output

    Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling

    Al-Holou, S. N., Siefker, E., Fouzdar-Jain, S., Suh, D. W. & Rizzo, W. B., Jul 3 2020, In : Ophthalmic genetics. 41, 4, p. 381-385 5 p.

    Research output: Contribution to journalArticle

  • An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

    Kazi, Z. B., Desai, A. K., Troxler, R. B., Kronn, D., Packman, S., Sabbadini, M., Rizzo, W. B., Scherer, K., Abdul-Rahman, O., Tanpaiboon, P., Nampoothiri, S., Gupta, N., Feigenbaum, A., Niyazov, D. M., Sherry, L., Segel, R., McVie-Wylie, A., Sung, C., Joseph, A. M., Richards, S. & 1 others, Kishnani, P. S., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 887-895 9 p.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

    Bose, M., Mahadevan, M., Schules, D. R., Coleman, R. K., Gawron, K. M., Gamble, M. B., Roullet, J. B., Gibson, K. M. & Rizzo, W. B., Jun 2019, In : Molecular Genetics and Metabolism Reports. 19, 100459.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Genotype and phenotype variability in Sjögren-Larsson syndrome

    Weustenfeld, M., Eidelpes, R., Schmuth, M., Rizzo, W. B., Zschocke, J. & Keller, M. A., Feb 1 2019, In : Human mutation. 40, 2, p. 177-186 10 p.

    Research output: Contribution to journalArticle

  • 7 Scopus citations

    Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype

    Fouzdar-Jain, S., Suh, D. W. & Rizzo, W. B., Jul 4 2019, In : Ophthalmic genetics. 40, 4, p. 298-308 11 p.

    Research output: Contribution to journalReview article

  • 1 Scopus citations