William B Rizzo, MD

  • 6081 Citations
  • 35 h-Index
1977 …2020

Research output per year

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Research Output

2000

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
36 Scopus citations

Peroxisome 1, 2, 3 ...

Rizzo, W. B., 2000, In : Annals of Neurology. 47, 3, p. 281-283 3 p.

Research output: Contribution to journalEditorial

2 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 2000, In : Journal of Lipid Research. 41, 7, p. 1077-1081 5 p.

Research output: Contribution to journalArticle

48 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., 1999, In : American Journal of Neuroradiology. 20, 9, p. 1671-1673 3 p.

Research output: Contribution to journalArticle

33 Scopus citations

Sjogren-Larsson syndrome: Explaining the skin-brain connection

Rizzo, W. B., Apr 22 1999, In : Neurology. 52, 7, p. 1307-1308 2 p.

Research output: Contribution to journalEditorial

19 Scopus citations

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

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

Research output: Contribution to journalArticle

101 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

29 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 1998, In : American Journal of Physiology - Endocrinology and Metabolism. 275, 4 38-4, p. E665-E670

Research output: Contribution to journalArticle

45 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

102 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 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., 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

16 Scopus citations

Sjogren-Larsson syndrome

Rizzo, W., Jan 1996, In : Molecular and Chemical Neuropathology. 27, 1, p. 74-78 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

De Laurenzi, V., Rogers, G. R., Hamrock, D. J., Marekov, L. N., Steinert, P. M., Compton, J. G., Markova, N. & Rizzo, W. B., Jan 1996, In : Nature Genetics. 12, 1, p. 52-57 6 p.

Research output: Contribution to journalArticle

217 Scopus citations
1995

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
1994

More on lorenzo's oil

Odone, A., Odone, M., Aubourg, P. & Rizzo, W. B., Jun 30 1994, In : New England Journal of Medicine. 330, 26, p. 1904-1905 2 p.

Research output: Contribution to journalLetter

7 Scopus citations

On 'Being Led by the Nose': Rapid Detection of Inborn Errors of Metabolism

Rizzo, W. B. & Roth, K. S., Aug 1994, In : Archives of Pediatrics & Adolescent Medicine. 148, 8, p. 869-872 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods

Rizzo, W. B., Craft, D. A., Kelson, T. L., Bonnefont, JP. P., Saudubray, JM. M., Schulman, J. D., Black, S. H., Tabsh, K., Dirocco, M. & Gardner, R. J. M. K., Jul 1994, In : Prenatal Diagnosis. 14, 7, p. 577-581 5 p.

Research output: Contribution to journalArticle

29 Scopus citations

Sjögren-Larsson syndrome: Nuclear magnetic resonance imaging of the brain in a 4-year-old boy

Di Rocco, M., Filocamo, M., Tortori-Donati, P., Veneselli, E., Borrone, C. & Rizzo, W. B., Jan 1994, In : Journal of Inherited Metabolic Disease. 17, 1, p. 112-114 3 p.

Research output: Contribution to journalArticle

8 Scopus citations

Unsuccessful dietary treatment of Sjögren-Larsson syndrome

Maaswinkel-Mooij, P. D., Brouwer, O. F. & Rizzo, W. B., May 1994, In : The Journal of Pediatrics. 124, 5 PART 1, p. 748-750 3 p.

Research output: Contribution to journalArticle

23 Scopus citations
1993

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

Lorenzo's Oil – Hope and Disappointment

Rizzo, W. B., Sep 9 1993, In : New England Journal of Medicine. 329, 11, p. 801-802 2 p.

Research output: Contribution to journalEditorial

27 Scopus citations

Sjogren-Larsson syndrome

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

Research output: Contribution to journalReview article

58 Scopus citations

Sjögren-larsson syndrome: Technique and timing of prenatal diagnosis

Tabsh, K., Rizzo, W. B., Holbrook, K. & Theroux, N., Oct 1993, In : Obstetrics and gynecology. 82, 4, p. 700-703 4 p.

Research output: Contribution to journalArticle

6 Scopus citations
1992

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

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 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

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

Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes

Zoeller, R. A., Rangaswamy, S., Herscovitz, H., Rizzo, W. B., Hajra, A. K., Das, A. K., Moser, H. W., Moser, A., Lazarow, P. B. & Santos, M. J., 1992, In : Journal of Biological Chemistry. 267, 12, p. 8299-8306 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Peroxisomal Abnormality in Fibroblasts From Involved Skin of CHILD Syndrome: Case Study and Review of Peroxisomal Disorders in Relation to Skin Disease

Emami, S., Rizzo, W. B., Hanley, K. P., Taylor, J. M., Goldyne, M. E. & Williams, M. L., Sep 1992, In : Archives of Dermatology. 128, 9, p. 1213-1222 10 p.

Research output: Contribution to journalArticle

38 Scopus citations

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity

Scalais, E., Verloes, A., Sacré, J. P., Piérard, G. E. & Rizzo, W. B., 1992, In : Pediatric Neurology. 8, 6, p. 459-465 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

X-linked adrenoleukodystrophy: A cause of primary adrenal insufficiency in males

Rizzo, W. B., May 1992, In : Endocrinologist. 2, 3, p. 177-183 7 p.

Research output: Contribution to journalArticle

7 Scopus citations
1991

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

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

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
Open Access
124 Scopus citations

Sjögren‐Larsson Syndrome: Case Reports

Levisohn, D., Dintiman, B. & Rizzo, W. B., Sep 1991, In : Pediatric dermatology. 8, 3, p. 217-220 4 p.

Research output: Contribution to journalArticle

7 Scopus citations
1990

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

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
Open Access
12 Scopus citations
19 Scopus citations

X-linked adrenoleukodystrophy: Biochemical and clinical efficacy of dietary erucic acid therapy

Rizzo, W. B., Leshner, R. T., Odone, A., Craft, D. A., Jennings, S. S., Jaitly, R. & Sgro, J. A., 1990, Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898. Uziel, G., Wanders, R. J. A., Cappa, M., Uziel, G., Wanders, R. J. A. & Cappa, M. (eds.). Elsevier Science Publishers B.V., p. 149-162 14 p. (Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

14 Scopus citations
1989

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