William B Rizzo, MD

Professor

  • 5725 Citations
  • 34 h-Index
1977 …2019
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Research Output 1977 2019

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Review article
2019

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
2017
5 Citations (Scopus)

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Adang, L. A., Sherbini, O., Ball, L., Bloom, M., Darbari, A., Amartino, H., DiVito, D., Eichler, F., Escolar, M., Evans, S. H., Fatemi, A., Fraser, J., Hollowell, L., Jaffe, N., Joseph, C., Karpinski, M., Keller, S., Maddock, R., Mancilla, E., McClary, B. & 21 others, Mertz, J., Morgart, K., Langan, T., Leventer, R., Parikh, S., Pizzino, A., Prange, E., Renaud, D. L., Rizzo, W. B., Shapiro, J., Suhr, D., Suhr, T., Tonduti, D., Waggoner, J., Waldman, A., Wolf, N. I., Zerem, A., Bonkowsky, J. L., Bernard, G., van Haren, K. & Vanderver, A., Sep 2017, In : Molecular Genetics and Metabolism. 122, 1-2, p. 18-32 15 p.

Research output: Contribution to journalReview article

Inborn Genetic Diseases
Preventive Medicine
Adrenal Insufficiency
Pathology
Gallbladder
2016
61 Citations (Scopus)

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G. & Bose, M., Mar 1 2016, In : Molecular Genetics and Metabolism. 117, 3, p. 313-321 9 p.

Research output: Contribution to journalReview article

Zellweger Syndrome
Guidelines
Newborn Infant
Therapeutics
Inborn Genetic Diseases
2015
69 Citations (Scopus)

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

behalf of the GLIA Consortium, Apr 1 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 501-515 15 p.

Research output: Contribution to journalReview article

Leukoencephalopathies
Testing
Genes
Anodontia
Adrenoleukodystrophy
2014
40 Citations (Scopus)
Fatty Alcohols
Lipids
long-chain-aldehyde dehydrogenase
long-chain-alcohol dehydrogenase
Ether
2013
6 Citations (Scopus)

Complications of ichthyosis beyond the skin

Diaz, L. Z., Browning, J. C., Smidt, A. C., Rizzo, W. B. & Levy, M. L., Jan 1 2013, In : Dermatologic Therapy. 26, 1, p. 39-45 7 p.

Research output: Contribution to journalReview article

Ichthyosis
Skin
Ear
Quality of Life
Newborn Infant
2011
13 Citations (Scopus)

The role of fatty aldehyde dehydrogenase in epidermal structure and function

Rizzo, W. B., Apr 1 2011, In : Dermato-Endocrinology. 3, 2, p. 91-99 9 p.

Research output: Contribution to journalReview article

long-chain-aldehyde dehydrogenase
Cornea
Membranes
Exocytosis
Lipids
2008
90 Citations (Scopus)

Mitochondrial Fatty-Acid Oxidation Disorders

Kompare, M. & Rizzo, W. B., Sep 1 2008, In : Seminars in Pediatric Neurology. 15, 3, p. 140-149 10 p.

Research output: Contribution to journalReview article

Fatty Acids
Sudden Death
Dicarboxylic Acids
Rhabdomyolysis
Retinitis Pigmentosa
2007
98 Citations (Scopus)
long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Molecular Biology
Metabolism
Mutation
2005
87 Citations (Scopus)

Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)

Rizzo, W. B. & Carney, G., Jul 1 2005, In : Human mutation. 26, 1, p. 1-10 10 p.

Research output: Contribution to journalReview article

long-chain-aldehyde dehydrogenase
Mutation
Genes
Enzymes
Founder Effect
1993
57 Citations (Scopus)

Sjogren-Larsson syndrome

Rizzo, W. B., Jan 1 1993, In : Seminars in Dermatology. 12, 3, p. 210-218 9 p.

Research output: Contribution to journalReview article

Sjogren-Larsson Syndrome
Fatty Alcohols
Ichthyosis
long-chain-aldehyde dehydrogenase
long-chain-alcohol dehydrogenase