William B Rizzo, MD

  • 5971 Citations
  • 34 h-Index
1977 …2019

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2019

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
2018

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

8 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

6 Scopus citations

Neuro-ichthyotic syndromes: A case series

Incecik, F., Herguner, O. M., Ozbek, M. N., Gungor, S., Yilmaz, M., Rizzo, W. B. & Mert, G. G., Jan 1 2018, In : Journal of Pediatric Neurosciences. 13, 1, p. 34-38 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran

Kariminejad, A., Barzgar, M., Bozorgmehr, B., Keshavarz, E., Kariminejad, M. H., S'Aulis, D. & Rizzo, W. B., Mar 2018, In : European Journal of Medical Genetics. 61, 3, p. 139-144 6 p.

Research output: Contribution to journalArticle

5 Scopus citations
2017

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

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
2016

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

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

15 Scopus citations

Low bone mineral density is a common feature of Zellweger spectrum disorders

Rush, E. T., Goodwin, J. L., Braverman, N. E. & Rizzo, W. B., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 33-37 5 p.

Research output: Contribution to journalArticle

7 Scopus citations
2015

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome

Jack, L. S., Benson, C., Sadiq, M. A., Rizzo, W. B. & Margalit, E., Aug 1 2015, In : Ophthalmology. 122, 8, p. 1730-1732 3 p.

Research output: Contribution to journalArticle

9 Scopus citations
2013

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

Incecik, F., Herguner, O. M., Rizzo, W. B. & Altunbasak, S., Jul 1 2013, In : Annals of Indian Academy of Neurology. 16, 3, p. 425-427 3 p.

Research output: Contribution to journalArticle

6 Scopus citations

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy

Biffi, A., Montini, E., Lorioli, L., Cesani, M., Fumagalli, F., Plati, T., Baldoli, C., Martino, S., Calabria, A., Canale, S., Benedicenti, F., Vallanti, G., Biasco, L., Leo, S., Kabbara, N., Zanetti, G., Rizzo, W. B., Mehta, N. A. L., Cicalese, M. P., Casiraghi, M. & 17 others, Boelens, J. J., Del Carro, U., Dow, D. J., Schmidt, M., Assanelli, A., Neduva, V., Di Serio, C., Stupka, E., Gardner, J., Von Kalle, C., Bordignon, C., Ciceri, F., Rovelli, A., Roncarolo, M. G., Aiuti, A., Sessa, M. & Naldini, L., Jan 1 2013, In : Science. 341, 6148, 1233158.

Research output: Contribution to journalArticle

726 Scopus citations

Novel mutation in Sjögren-Larsson syndrome is associated with divergent neurologic phenotypes

Davis, K., Holden, K. R., S'Aulis, D., Amador, C., Matheus, M. G. & Rizzo, W. B., Oct 1 2013, In : Journal of Child Neurology. 28, 10, p. 1259-1265 7 p.

Research output: Contribution to journalArticle

12 Scopus citations
2012

Recognition and diagnosis of neuro-ichthyotic syndromes

Rizzo, W. B., Jenkens, S. & Boucher, P., Mar 16 2012, In : Seminars in Neurology. 32, 1, p. 75-84 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Zellweger syndrome and associated brain malformations: Report of a novel Peroxin1 (PEX1) Mutation in a Native American Infant

Mohebbi, M. R., Rush, E. T., Rizzo, W. B. & Banagale, R. C., Dec 1 2012, In : Journal of Child Neurology. 27, 12, p. 1589-1592 4 p.

Research output: Contribution to journalArticle

2 Scopus citations
2011

Large contiguous gene deletions in Sjögren-Larsson syndrome

Engelstad, H., Carney, G., S'Aulis, D., Rise, J., Sanger, W. G., Rudd, M. K., Richard, G., Carr, C. W., Abdul-Rahman, O. A. & Rizzo, W. B., Nov 1 2011, In : Molecular Genetics and Metabolism. 104, 3, p. 356-361 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Meeting report from frontiers in ichthyosis research

Milstone, L. M., Rizzo, W. B. & Pickford, J. R., Feb 1 2011, In : Journal of Investigative Dermatology. 131, 2, p. 279-282 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

Aldahmesh, M. A., Mohamed, J. Y., Alkuraya, H. S., Verma, I. C., Puri, R. D., Alaiya, A. A., Rizzo, W. B. & Alkuraya, F. S., Dec 9 2011, In : American Journal of Human Genetics. 89, 6, p. 745-750 6 p.

Research output: Contribution to journalArticle

103 Scopus citations
2010

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 1 2010, In : Archives of Dermatological Research. 302, 6, p. 443-451 9 p.

Research output: Contribution to journalArticle

33 Scopus citations
2008

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 1 2008, In : Journal of Lipid Research. 49, 2, p. 410-419 10 p.

Research output: Contribution to journalArticle

32 Scopus citations
2007

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

Didona, B., Codispoti, A., Bertini, E., Rizzo, W. B., Carney, G., Zambruno, G., Dionisi-Vici, C., Paradisi, M., Pedicelli, C., Melino, G. & Terrinoni, A., Oct 1 2007, In : Journal of Human Genetics. 52, 10, p. 865-870 6 p.

Research output: Contribution to journalArticle

10 Scopus citations
2006

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome

Lossos, A., Khoury, M., Rizzo, W. B., Gomori, J. M., Banin, E., Zlotogorski, A., Jaber, S., Abramsky, O., Argov, Z. & Rosenmann, H., Feb 1 2006, In : Archives of Neurology. 63, 2, p. 278-280 3 p.

Research output: Contribution to journalArticle

27 Scopus citations

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene

Auada, M. P., Puzzi, M. B., Cintra, M. L., Steiner, C. E., Alexandrino, F., Sartorato, E. L., Aguiar, T. S., Azulay, R. D., Carney, G. & Rizzo, W. B., Apr 1 2006, In : British Journal of Dermatology. 154, 4, p. 770-773 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome

Auada, M. P., Adam, R. L., Leite, N. J., Puzzi, M. B., Cintra, M. L., Rizzo, W. B. & Metze, K., Aug 1 2006, In : Analytical and Quantitative Cytology and Histology. 28, 4, p. 219-227 9 p.

Research output: Contribution to journalArticle

18 Scopus citations
2004

Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

Carney, G., Wei, S. & Rizzo, W. B., Aug 2004, In : Human mutation. 24, 2, 1 p.

Research output: Contribution to journalArticle

22 Scopus citations
2001

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

Nonalcoholic steatohepatitis: Association of insulin resistance and mitochondrial abnormalities

Sanyal, A. J., Campbell-Sargent, C., Mirshahi, F., Rizzo, W. B., Contos, M. J., Sterling, R. K., Luketic, V. A., Shiffman, M. L. & Clore, J. N., Apr 2001, In : Gastroenterology. 120, 5, p. 1183-1192 10 p.

Research output: Contribution to journalArticle

1511 Scopus citations

Unusual clinical presentation in two cases of multiple sulfatase deficiency

Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B. & Cuevas-Covarrubias, S. A., Nov 29 2001, In : Pediatric dermatology. 18, 5, p. 388-392 5 p.

Research output: Contribution to journalArticle

19 Scopus citations
2000

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., Jan 1 2000, In : Metabolism: Clinical and Experimental. 49, 2, p. 232-238 7 p.

Research output: Contribution to journalArticle

31 Scopus citations

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

Clore, J. N., Li, J. & Rizzo, W. B., Jan 1 2000, In : Lipids. 35, 11, p. 1281-1287 7 p.

Research output: Contribution to journalArticle

7 Scopus citations

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

Lin, Z., Carney, G. & Rizzo, W. B., Jan 1 2000, In : Molecular Genetics and Metabolism. 71, 3, p. 496-505 10 p.

Research output: Contribution to journalArticle

20 Scopus citations
36 Scopus citations

Sjogren-Larsson-Syndrom

Translated title of the contribution: Sjogren-Larsson SyndromeMöhrenschlager, M., Rizzo, W. B., Krausn, C. S., Limbrock, J., Cohen, M., Anton-Lamprecht, I., Abeck, D. & Ring, J., Apr 2000, In : Hautarzt. 51, 4, p. 250-255 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Sjogren-Larsson syndrome: Accumulation of free fatty alcohols in cultured fibroblasts and plasma

Rizzo, W. B. & Craft, D. A., Jul 1 2000, In : Journal of Lipid Research. 41, 7, p. 1077-1081 5 p.

Research output: Contribution to journalArticle

45 Scopus citations
1999

Proton MR spectroscopy of Sjogren-Larsson's syndrome

Mano, T., Ono, J., Kaminaga, T., Imai, K., Sakurai, K., Harada, K., Nagai, T., Rizzo, W. B. & Okada, S., Nov 4 1999, In : American Journal of Neuroradiology. 20, 9, p. 1671-1673 3 p.

Research output: Contribution to journalArticle

33 Scopus citations

The molecular basis of Sjogren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene

Rizzo, W. B., Carney, G. & Lin, Z., Jan 1 1999, In : American Journal of Human Genetics. 65, 6, p. 1547-1560 14 p.

Research output: Contribution to journalArticle

100 Scopus citations
1998

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

28 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

Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: Use of a novel two-step selection protocol

Nagan, N., Hajra, A. K., Larkins, L. K., Lazarow, P., Purdue, P. E., Rizzo, W. B. & Zoeller, R. A., May 15 1998, In : Biochemical Journal. 332, 1, p. 273-279 7 p.

Research output: Contribution to journalArticle

30 Scopus citations

Skeletal muscle phosphatidylcholine fatty acids and insulin sensitivity in normal humans

Clore, J. N., Li, J., Gill, R., Gupta, S., Spencer, R., Azzam, A., Zuelzer, W., Rizzo, W. B. & Blackard, W. G., Oct 1 1998, In : American Journal of Physiology - Endocrinology and Metabolism. 275, 4 38-4, p. E665-E670

Research output: Contribution to journalArticle

44 Scopus citations
1997

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

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

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

100 Scopus citations

Phospholipid fatty acid composition in type I and Type II rat muscle

Blackard, W. G., Li, J., Clore, J. N. & Rizzo, W. B., Feb 1 1997, In : Lipids. 32, 2, p. 193-198 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Sjogren-Larsson syndrome is caused by a common mutation in northern european and swedish patients

De Laurenzi, V., Rogers, G. R., Tarcsa, E., Carney, G., Marekov, L., Bale, S. J., Compton, J. G., Markova, N., Steinert, P. M. & Rizzo, W. B., Jan 1 1997, In : Journal of Investigative Dermatology. 109, 1, p. 79-83 5 p.

Research output: Contribution to journalArticle

Open Access
32 Scopus citations
1996

Redefining the Sjogren-Larsson syndrome: Atypical findings in three siblings and implications regarding diagnosis

Nigro, J. F., Rizzo, W. B. & Esterly, N. B., Nov 1996, In : Journal of the American Academy of Dermatology. 35, 5 I, p. 678-684 7 p.

Research output: Contribution to journalArticle

15 Scopus citations