William B Rizzo, MD

  • 6081 Citations
  • 35 h-Index
1977 …2020

Research output per year

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Research Output

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome

S'aulis, D., Khoury, E. A., Zabel, M. & Rizzo, W. B., 2020, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome

Rizzo, W. B., Craft, D. A., Somer, T., Carney, G., Trafrova, J. & Simon, M., Feb 2008, In : Journal of Lipid Research. 49, 2, p. 410-419 10 p.

Research output: Contribution to journalArticle

35 Scopus citations

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

86 Scopus citations

A common deletion mutation in European patients with Sjogren-Larsson syndrome

Rizzo, W. B., Carney, G. & De Laurenzi, V., Dec 1997, In : Biochemical and Molecular Medicine. 62, 2, p. 178-181 4 p.

Research output: Contribution to journalArticle

24 Scopus citations

Adrenoleukodystrophy: Oleic acid lowers fibroblast saturated C22–26 fatty acids

Rizzo, W. B., Watkins, P. A., Phillips, M. W., Cranin, D., Campbell, B. & Avigan, J., Mar 1986, In : Neurology. 36, 3, p. 357-361 5 p.

Research output: Contribution to journalArticle

102 Scopus citations

Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

Rizzo, W. B., Phillips, M. W., Dammann, A. L., Leshner, R. T., Jennings, S. S., Avigan, J. & Proud, V. K., Mar 1987, In : Annals of Neurology. 21, 3, p. 232-239 8 p.

Research output: Contribution to journalArticle

76 Scopus citations

Adrenoleukodystrophy: Effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids

Brown, F. R., van Duyn, M. A. S., Moser, A. B., Schulman, J. D., Rizzo, W. B., Snyder, R. D., Murphy, J. V., Kamoshita, S. & Migeon, C. J., 1982, In : Johns Hopkins Medical Journal. 151, 4, p. 164-172 9 p.

Research output: Contribution to journalArticle

60 Scopus citations

Adrenoleukodystrophy: Very long-chain fatty acid metabolism in fibroblasts

Rizzo, W. B., Avigan, J., Chemke, J. & Schulman, J. D., Feb 1984, In : Neurology. 34, 2, p. 163-169 7 p.

Research output: Contribution to journalArticle

51 Scopus citations

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

9 Scopus citations

Amino Acids in Milk in Cystinuria

Allen, J. C., Neville, M. C., Seacat, J. M., Casey, C. E., Neifert, M. R., Gahl, W. A. & Rizzo, W. B., May 17 1984, In : New England Journal of Medicine. 310, 20, p. 1332-1333 2 p.

Research output: Contribution to journalLetter

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

8 Scopus citations

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families

Costakos, D., Abramson, R. K., Edwards, J. G., Rizzo, W. B. & Best, R. G., 1991, In : American journal of medical genetics. 41, 3, p. 295-300 6 p.

Research output: Contribution to journalArticle

16 Scopus citations

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Incecik, F., Herguner, O. M., Rizzo, W. B. & Altunbasak, S., Jul 2013, In : Annals of Indian Academy of Neurology. 16, 3, p. 425-427 3 p.

Research output: Contribution to journalArticle

6 Scopus citations

Carrier detection for Sjögren-Larsson syndrome

Kelson, T. L., Craft, D. A. & Rizzo, W. B., Jan 1992, In : Journal of Inherited Metabolic Disease. 15, 1, p. 105-111 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Changes in phosphatidylcholine fatty acid composition are associated with altered skeletal muscle insulin responsiveness in normal man

Clore, J. N., Harris, P. A., Li, J., Azzam, A., Gill, R., Zuelzer, W., Rizzo, W. B. & Blackard, W. G., 2000, In : Metabolism: Clinical and Experimental. 49, 2, p. 232-238 7 p.

Research output: Contribution to journalArticle

31 Scopus citations

Clinical variation in X-linked adrenoleukodystrophy: Fatty acid and lipid metabolism in cultured fibroblasts

Boles, D. J., Craft, D. A., Padgett, D. A., Loria, R. M. & Rizzo, W. B., Feb 1991, In : Biochemical Medicine and Metabolic Biology. 45, 1, p. 74-91 18 p.

Research output: Contribution to journalArticle

29 Scopus citations

Complications of ichthyosis beyond the skin

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

Research output: Contribution to journalReview article

7 Scopus citations

Cysteamine Therapy for Children with Nephropathic Cystinosis

Gahl, W. A., Reed, G. F., Thoene, J. G., Schulman, J. D., Rizzo, W. B., Jonas, A. J., Denman, D. W., Schlesselman, J. J., Corden, B. J. & Schneider, J. A., Apr 16 1987, In : New England Journal of Medicine. 316, 16, p. 971-977 7 p.

Research output: Contribution to journalArticle

227 Scopus citations

Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid.

Zenger-Hain, J., Craft, D. A. & Rizzo, W. B., 1992, In : Progress in clinical and biological research. 375, p. 399-407 9 p.

Research output: Contribution to journalArticle

17 Scopus citations

Dietary erucic acid therapy for X-linked adrenoleukodystrophy

Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R. & Sgro, J. A., Nov 1989, In : Neurology. 39, 11, p. 1415-1422 8 p.

Research output: Contribution to journalArticle

157 Scopus citations

Dietary fatty acids temporarily alter liver very long-chain fatty acid composition in mice

Boles, D. J. & Rizzo, W. B., 1992, In : Journal of Nutrition. 122, 8, p. 1662-1671 10 p.

Research output: Contribution to journalArticle

6 Scopus citations

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Staps, P., Rizzo, W. B., Vaz, F. M., Bugiani, M., Giera, M., Heijs, B., van Kampen, A. H. C., Pras-Raves, M. L., Breur, M., Groen, A., Ferdinandusse, S., van der Graaf, M., Van Goethem, G., Lammens, M., Wevers, R. A. & Willemsen, M. A. A. P., 2020, (Accepted/In press) In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Open Access

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype

Rush, E. T., Baker, C. V. & Rizzo, W. B., Sep 2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2428-2434 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine

Roesel, R. A., Carroll, J. E., Rizzo, W. B., van der Zalm, T. & Hahn, D. A., Nov 1991, In : Journal of Inherited Metabolic Disease. 14, 6, p. 876-880 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Effect of biotin deficiency and supplementation on lipid metabolism in rats, saturated fatty acids

Suchy, S. F., Rizzo, W. B. & Wolf, B., 1986, In : American Journal of Clinical Nutrition. 44, 4, p. 475-480 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Effects of fructose and troglitazone on phospholipid fatty acid composition in rat skeletal muscle

Clore, J. N., Li, J. & Rizzo, W. B., 2000, In : Lipids. 35, 11, p. 1281-1287 7 p.

Research output: Contribution to journalArticle

7 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

Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats

Proud, V. K., Rizzo, W. B., Patterson, J. W., Heard, G. S. & Wolf, B., May 1990, In : American Journal of Clinical Nutrition. 51, 5, p. 853-858 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Fatty Acids in Biotin Deficiency

SUCHY, SHARON. F., RIZZO, WILLIAM. B. & WOLF, BARRY., Jun 1985, In : Annals of the New York Academy of Sciences. 447, 1, p. 429 1 p.

Research output: Contribution to journalArticle

Fatty Alcohol Accumulation in the Autosomal Recessive Form of Rhizomelic Chondrodysplasia Punctata

Rizzo, W. B., Craft, D. A., Judd, L. L., Moser, H. W. & Moser, A. B., Aug 1993, In : Biochemical Medicine and Metabolic Biology. 50, 1, p. 93-102 10 p.

Research output: Contribution to journalArticle

20 Scopus citations

Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle

Rizzo, W. B., Craft, D. A., Dammann, A. L. & Phillips, M. W., 1987, In : Journal of Biological Chemistry. 262, 36, p. 17412-17419 8 p.

Research output: Contribution to journalArticle

65 Scopus citations
49 Scopus citations

Fatty aldehyde dehydrogenase: Genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome

Rizzo, W. B., Lin, Z. & Carney, G., Jan 30 2001, In : Chemico-Biological Interactions. 130-132, p. 297-307 11 p.

Research output: Contribution to journalArticle

24 Scopus citations

Formation and characterization of lipid droplets of the bovine corpus luteum

Talbott, H. A., Plewes, M. R., Krause, C., Hou, X., Zhang, P., Rizzo, W. B., Wood, J. R., Cupp, A. S. & Davis, J. S., Dec 1 2020, In : Scientific reports. 10, 1, 11287.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Genetic homogeneity in Sjogren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins

Rogers, G. R., Rizzo, W. B., Zlotogorski, A., Hashem, N., Lee, M., Compton, J. G. & Bale, S. J., 1995, In : American Journal of Human Genetics. 57, 5, p. 1123-1129 7 p.

Research output: Contribution to journalArticle

25 Scopus citations

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome

Rizzo, W. B., Apr 2 2016, In : Expert Opinion on Orphan Drugs. 4, 4, p. 395-406 12 p.

Research output: Contribution to journalArticle

19 Scopus citations

Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene

Lin, Z., Carney, G. & Rizzo, W. B., 2000, In : Molecular Genetics and Metabolism. 71, 3, p. 496-505 10 p.

Research output: Contribution to journalArticle

20 Scopus citations

Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

Rogers, G. R., Markova, N. G., De Laurenzi, V., Rizzo, W. B. & Compton, J. G., Jan 15 1997, In : Genomics. 39, 2, p. 127-135 9 p.

Research output: Contribution to journalArticle

51 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

Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization

Kelson, T. L., Secor McVoy, J. R. & Rizzo, W. B., Apr 17 1997, In : Biochimica et Biophysica Acta - General Subjects. 1335, 1-2, p. 99-110 12 p.

Research output: Contribution to journalArticle

102 Scopus citations

Ichthyosis, Mental Retardation, and Asymptomatic Spasticity: A New Neurocutaneous Syndrome with Normal Fatty Alcohol:NAD+ Oxidoreductase Activity

Koone, M. D., Rizzo, W. B., Elias, P. M., Williams, M. L., Lightner, V. & Pinnell, S. R., Nov 1990, In : Archives of Dermatology. 126, 11, p. 1485-1490 6 p.

Research output: Contribution to journalArticle

21 Scopus citations

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion

Rizzo, W. B., S'Aulis, D., Jennings, M. A., Crumrine, D. A., Williams, M. L. & Elias, P. M., Aug 2010, In : Archives of Dermatological Research. 302, 6, p. 443-451 9 p.

Research output: Contribution to journalArticle

36 Scopus citations

Identification of new markers in Xp21 between DXS28 (C7) and DMD

Worley, K. C., Towbin, J. A., Zhu, X. M., Barker, D. F., Ballabio, A., Chamberlain, J., Biesecker, L. G., Blethen, S. L., Brosnan, P., Fox, J. E., Rizzo, W. B., Romeo, G., Sakuragawa, N., Seltzer, W. K., Yamaguchi, S. & McCabe, E. R. B., Aug 1992, In : Genomics. 13, 4, p. 957-961 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Immunological probes for chromatin structure

Bustin, M., Kurth, P. D., Moudrianakis, E. N., Goldblatt, D., Sperling, R. & Rizzo, W. B., 1977, In : Unknown Journal. 42, 1, p. 379-388 10 p.

Research output: Contribution to journalArticle

16 Scopus citations

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

Zori, R., Thomas, J. A., Shur, N., Rizzo, W. B., Decker, C., Rosen, O., Li, M., Schweighardt, B., Larimore, K. & Longo, N., Nov 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 217-227 11 p.

Research output: Contribution to journalArticle

8 Scopus citations

Inherited disorders of fatty alcohol metabolism

Rizzo, W. B., Oct 1998, In : Molecular Genetics and Metabolism. 65, 2, p. 63-73 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome

Hidalgo, E. T., Orillac, C., Hersh, A., Harter, D. H., Rizzo, W. B. & Weiner, H. L., Jan 1 2017, In : Journal of Child Neurology. 32, 1, p. 100-103 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

Involvement of microsomal fatty aldehyde dehydrogenase in the α- oxidation of phytanic acid

Verhoeven, N. M., Jakobs, C., Carney, G., Somers, M. P., Wanders, R. J. A. & Rizzo, W. B., Jun 16 1998, In : FEBS Letters. 429, 3, p. 225-228 4 p.

Research output: Contribution to journalArticle

57 Scopus citations
Open Access
12 Scopus citations