William B Rizzo, MD

Professor

  • 5776 Citations
  • 34 h-Index
1977 …2019
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Research Output 1977 2019

1999
31 Citations (Scopus)

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

Sjogren-Larsson Syndrome
Protons
Magnetic Resonance Spectroscopy
Basal Ganglia
Proton Magnetic Resonance Spectroscopy
19 Citations (Scopus)

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

Sjogren-Larsson Syndrome
Skin Diseases
Skin
Brain
98 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Mutation
Genes
RNA Splice Sites
1998
27 Citations (Scopus)

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

Fatty Alcohols
Metabolism
Peroxisomal Disorders
Ether
Infantile Refsum's Disease
55 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Phytanic Acid
Oxidation
Ethanolamine
29 Citations (Scopus)

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

glycerone-phosphate O-acyltransferase
Plasmalogens
Biosynthesis
Fibroblasts
Cricetulus
long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Cytochrome Reductases
Nephrosis
Hypospadias
43 Citations (Scopus)

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

Phosphatidylcholines
Muscle
Insulin Resistance
Skeletal Muscle
Fatty Acids
1997
23 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Sequence Deletion
Mutation
Exons
49 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Genes
Exons
Transcription Initiation Site
98 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Liver
Purification
Sjogren-Larsson Syndrome
2-butenal
24 Citations (Scopus)

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

Muscle
Rats
Phospholipids
phosphatidylcholines
Fatty Acids
31 Citations (Scopus)

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
long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Mutation
Fatty Alcohols
Enzymes
1996
14 Citations (Scopus)

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

Sjogren-Larsson Syndrome
long-chain-alcohol dehydrogenase
Siblings
long-chain-aldehyde dehydrogenase
NAD
1 Citation (Scopus)

Sjogren-Larsson syndrome

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

Research output: Contribution to journalArticle

Sjogren-Larsson Syndrome
210 Citations (Scopus)

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 1 1996, In : Nature Genetics. 12, 1, p. 52-57 6 p.

Research output: Contribution to journalArticle

long-chain-aldehyde dehydrogenase
Mutation
Genes
Sjogren-Larsson Syndrome
INDEL Mutation
1995
24 Citations (Scopus)

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., Jan 1 1995, In : American Journal of Human Genetics. 57, 5, p. 1123-1129 7 p.

Research output: Contribution to journalArticle

Sjogren-Larsson Syndrome
Chromosomes
Chromosomes, Human, Pair 17
Genes
Ichthyosis
1994
7 Citations (Scopus)

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

Adrenoleukodystrophy
Peripheral Nervous System
Lorenzo's oil
Spinal Cord
Oils
2 Citations (Scopus)

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

Inborn Errors Metabolism
Nose
Smell
Physical Examination
Sensitivity and Specificity
29 Citations (Scopus)

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

Prenatal Diagnosis
long-chain-aldehyde dehydrogenase
long-chain-alcohol dehydrogenase
Sjogren-Larsson Syndrome
Chorionic Villi
8 Citations (Scopus)

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 1 1994, In : Journal of Inherited Metabolic Disease. 17, 1, p. 112-114 3 p.

Research output: Contribution to journalArticle

Sjogren-Larsson Syndrome
Magnetic Resonance Spectroscopy
Magnetic Resonance Imaging
Brain
22 Citations (Scopus)

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

Fat-Restricted Diet
Dietary Supplements
Neurologic Manifestations
Unsaturated Fatty Acids
Fatty Acids
1993
18 Citations (Scopus)

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 1 1993, In : Biochemical Medicine and Metabolic Biology. 50, 1, p. 93-102 10 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
Fatty Alcohols
Peroxisomal Disorders
Palmitates
Fibroblasts
26 Citations (Scopus)

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

Hope
Adrenoleukodystrophy
Public Opinion
Motion Pictures
Neurodegenerative Diseases
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
6 Citations (Scopus)

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

Prenatal Diagnosis
Biopsy
Pregnancy
Skin
long-chain-alcohol dehydrogenase
1992
20 Citations (Scopus)

Carrier detection for Sjögren-Larsson syndrome

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

Research output: Contribution to journalArticle

long-chain-aldehyde dehydrogenase
Heterozygote
long-chain-alcohol dehydrogenase
Fibroblasts
Homozygote
17 Citations (Scopus)

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

Phytanic Acid
Inborn Errors Metabolism
Tritium
Solubility
Oxidation-Reduction
6 Citations (Scopus)

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

Boles, D. J. & Rizzo, W. B., Jan 1 1992, In : Journal of Nutrition. 122, 8, p. 1662-1671 10 p.

Research output: Contribution to journalArticle

very long chain fatty acids
dietary fat
Fatty Acids
fatty acid composition
liver
24 Citations (Scopus)

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

Sequence Tagged Sites
Duchenne Muscular Dystrophy
Clone Cells
Yeast Artificial Chromosomes
Multiplex Polymerase Chain Reaction
28 Citations (Scopus)

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., Jan 1 1992, In : Journal of Biological Chemistry. 267, 12, p. 8299-8306 8 p.

Research output: Contribution to journalArticle

glycerone-phosphate O-acyltransferase
Plasmalogens
Peroxisomes
plasmanylethanolamine desaturase
Macrophages
36 Citations (Scopus)

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

Peroxisomal Disorders
Skin Diseases
Fibroblasts
Skin
Ichthyosis
6 Citations (Scopus)

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., Jan 1 1992, In : Pediatric Neurology. 8, 6, p. 459-465 7 p.

Research output: Contribution to journalArticle

long-chain-alcohol dehydrogenase
Developmental Bone Disease
Intellectual Disability
Coxa Valga
Lamellar Ichthyosis
7 Citations (Scopus)

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

Adrenoleukodystrophy
Addison Disease
Adrenal Insufficiency
Demyelinating Diseases
Spastic Paraparesis
1991
16 Citations (Scopus)

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., Jan 1 1991, In : American journal of medical genetics. 41, 3, p. 295-300 6 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Prenatal Diagnosis
X-Linked Genes
Nuclear Family
Fetus
29 Citations (Scopus)

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

Adrenoleukodystrophy
Fibroblasts
Lipid Metabolism
Fatty Acids
Palmitates
12 Citations (Scopus)

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 1 1991, In : Journal of Inherited Metabolic Disease. 14, 6, p. 876-880 5 p.

Research output: Contribution to journalArticle

Phytanic Acid
Plasmalogens
Fatty Acids
Urine
pipecolic acid
120 Citations (Scopus)
Open Access
long-chain-aldehyde dehydrogenase
long-chain-alcohol dehydrogenase
Fibroblasts
Fatty Alcohols
NAD
6 Citations (Scopus)

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

long-chain-alcohol dehydrogenase
Fatty Alcohols
Ichthyosis
Cerebral Palsy
Intellectual Disability
1990
17 Citations (Scopus)

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

biotin
Biotin
skin (animal)
Fatty Acids
fatty acids
21 Citations (Scopus)

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

long-chain-alcohol dehydrogenase
Neurocutaneous Syndromes
Fatty Alcohols
Ichthyosis
Lipid Metabolism
10 Citations (Scopus)
Open Access
long-chain-alcohol dehydrogenase
Fatty Alcohols
Cricetulus
Ovary
Cell Line
19 Citations (Scopus)
Adrenoleukodystrophy
Auditory Pathways
Efferent Pathways
Visual Pathways
Magnetic Resonance Imaging
14 Citations (Scopus)

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., Jan 1 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

Adrenoleukodystrophy
Therapeutics
erucic acid
1989
155 Citations (Scopus)

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

Adrenoleukodystrophy
Oleic Acid
Diet
Therapeutics
Leukoencephalopathies
59 Citations (Scopus)

Sjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycle

Rizzo, W. B., Dammann, A. L., Craft, D. A., Black, S. H., Tilton, A. H., Africk, D., Chaves-Carballo, E., Holmgren, G. & Jagell, S., Aug 1989, In : The Journal of Pediatrics. 115, 2, p. 228-234 7 p.

Research output: Contribution to journalArticle

Fatty Alcohols
Heterozygote
Leukocytes
Fibroblasts
Palmitoyl Coenzyme A
1988
31 Citations (Scopus)

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

Gahl, W. A., Bernardini, I., Dalakas, M., Rizzo, W. B., Harper, G. S., Hoeg, J. M., Hurko, O. & Bernar, J., Jan 1 1988, In : Journal of Clinical Investigation. 81, 2, p. 549-560 12 p.

Research output: Contribution to journalArticle

Open Access
Cystinosis
Fanconi Syndrome
Carnitine
Therapeutics
Muscles
88 Citations (Scopus)
Open Access
Sjogren-Larsson Syndrome
Fatty Alcohols
NAD
Oxidoreductases
Fibroblasts
1987
75 Citations (Scopus)

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

Adrenoleukodystrophy
Oleic Acid
Fatty Acids
Erythrocytes
Monounsaturated Fatty Acids
222 Citations (Scopus)

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

Cystinosis
Cysteamine
Cystine
Control Groups
Therapeutics