William B Rizzo, MD

Professor

  • 5662 Citations
  • 33 h-Index
1977 …2019
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  • 3 Similar Profiles
long-chain-aldehyde dehydrogenase Medicine & Life Sciences
Sjogren-Larsson Syndrome Medicine & Life Sciences
Ichthyosis Medicine & Life Sciences
Fatty Alcohols Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
long-chain-alcohol dehydrogenase Medicine & Life Sciences
Fatty Acids Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Projects 1977 2019

Frontiers in Ichthyosis Research

Milstone, L. & Rizzo, W. B.

National Institutes of Health

4/1/103/31/11

Project: Research project

Ichthyosis
Research
Research Personnel
Skin
Biological Science Disciplines
Sjogren-Larsson Syndrome
Natural History
Terpenes
Sterols
Longitudinal Studies
Sjogren-Larsson Syndrome
Ichthyosis
long-chain-aldehyde dehydrogenase
Keratinocytes
Fatty Alcohols
Sjogren-Larsson Syndrome
Fatty Alcohols
long-chain-alcohol dehydrogenase
Enzymes
Fibroblasts
Adrenoleukodystrophy
Fatty Acids
Fibroblasts
Acids
Genetic Heterogeneity

Research Output 1977 2019

2 Citations (Scopus)

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

Glycogen Storage Disease Type II
Immune Tolerance
Methotrexate
Proteins
Therapeutics

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
Zellweger Syndrome
Parents
Caregivers
Focus Groups
Emotions
2 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Genotype
Phenotype
Ichthyosis
Poisons

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

Metabolic Diseases
Phenotype
long-chain-aldehyde dehydrogenase
Retina
Fatty Alcohols
5 Citations (Scopus)

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Wangler, M. F., Hubert, L., Donti, T. R., Ventura, M. J., Miller, M. J., Braverman, N., Gawron, K., Bose, M., Moser, A. B., Jones, R. O., Rizzo, W. B., Sutton, V. R., Sun, Q., Kennedy, A. D. & Elsea, S. H., Oct 1 2018, In : Genetics in Medicine. 20, 10, p. 1274-1283 10 p.

Research output: Contribution to journalArticle

Zellweger Syndrome
Peroxisomes
Metabolomics
Biomarkers
Sphingomyelins