William B Rizzo, MD

Professor

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

2019
2 Citations (Scopus)

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

Glycogen Storage Disease Type II
Immune Tolerance
Methotrexate
Proteins
Therapeutics

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
Zellweger Syndrome
Parents
Caregivers
Focus Groups
Emotions
4 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Genotype
Phenotype
Ichthyosis
Poisons

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
2018
5 Citations (Scopus)

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

Zellweger Syndrome
Peroxisomes
Metabolomics
Biomarkers
Sphingomyelins
5 Citations (Scopus)

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

Phenylketonurias
Phenylalanine
Titration
Blood
Maintenance
1 Citation (Scopus)

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

Ichthyosis
Multiple Sulfatase Deficiency Disease
Consanguinity
Deafness
Intellectual Disability
5 Citations (Scopus)

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

Iran
long-chain-aldehyde dehydrogenase
Phenotype
Mutation
Ichthyosis
2017
3 Citations (Scopus)

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

Congenital Disorders of Glycosylation
dolichol kinase
Phenotype
Oligosaccharides
Mutation
2 Citations (Scopus)

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

Baclofen
Therapeutics
Therapeutic Uses
Caregivers
Parents
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
3 Citations (Scopus)

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. B., 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

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Metabolism
Health
Newborn Infant
14 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Aldehydes
Peroxisome Proliferator-Activated Receptors
Farnesol
Ichthyosis
7 Citations (Scopus)

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

Zellweger Syndrome
Bone Density
Minerals
Bone
Bone Diseases
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

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

Rush, E. T., Goodwin, J. L., Braverman, N. E. & Rizzo, W. B., Jun 1 2016, In : Molecular Genetics and Metabolism Reports. 7, p. 94-95 2 p.

Research output: Contribution to journalLetter

Zellweger Syndrome
Peroxisomal Disorders
Spontaneous Fractures
PPAR gamma
Diphosphonates
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
8 Citations (Scopus)

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

Aldehyde Oxidoreductases
Sjogren-Larsson Syndrome
Retinal Neurons
Electroretinography
Retinal Diseases
2014
40 Citations (Scopus)
Fatty Alcohols
Lipids
long-chain-aldehyde dehydrogenase
long-chain-alcohol dehydrogenase
Ether

Sjögren-Larsson Syndrome

Roullet, J. B. & Rizzo, W. B., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 179-184 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Sjogren-Larsson Syndrome
Fatty Alcohols
Ichthyosis
Lipids
Leukoencephalopathies
2013
6 Citations (Scopus)

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

varespladib methyl
long-chain-aldehyde dehydrogenase
Mutation
Neurocutaneous Syndromes
Ichthyosis
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
674 Citations (Scopus)

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

Metachromatic Leukodystrophy
Cell- and Tissue-Based Therapy
Hematopoietic Stem Cells
Genetic Therapy
Cerebroside-Sulfatase
11 Citations (Scopus)

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

Nervous System
Fatty Alcohols
Phenotype
Mutation
long-chain-aldehyde dehydrogenase
2012
8 Citations (Scopus)

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

Ichthyosis
Nervous System Diseases
Refsum Disease
Inborn Genetic Diseases
Vision Disorders
2 Citations (Scopus)

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

Zellweger Syndrome
North American Indians
Mutation
Brain
Peroxisomal Disorders
2011
13 Citations (Scopus)

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

Gene Deletion
Genes
long-chain-aldehyde dehydrogenase
Missense Mutation
Microarrays
1 Citation (Scopus)

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

International cooperation
94 Citations (Scopus)

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

Ichthyosis
Quadriplegia
Intellectual Disability
Mutation
Fatty Acids
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
2010
33 Citations (Scopus)

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

Ichthyosis
Cornea
long-chain-aldehyde dehydrogenase
Membranes
Skin Abnormalities
2008
31 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Fatty Alcohols
Keratinocytes
Metabolism
long-chain-alcohol dehydrogenase
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
8 Citations (Scopus)

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

Mutation
Exons
long-chain-aldehyde dehydrogenase
Haplotypes
Ichthyosis
98 Citations (Scopus)
long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Molecular Biology
Metabolism
Mutation
2006
25 Citations (Scopus)

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

Siblings
long-chain-aldehyde dehydrogenase
Protons
Sjogren-Larsson Syndrome
Magnetic Resonance Spectroscopy
12 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Aldehyde Oxidoreductases
Sjogren-Larsson Syndrome
Ichthyosis
RNA Splice Sites
18 Citations (Scopus)

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

Epidermis
Hematoxylin
Eosine Yellowish-(YS)
Skin
Anisotropy
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
2004
20 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Exons
Mutation
Genes
Haplotypes
2001
24 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Mutation
Genes
Phytanic Acid
Fatty Alcohols
1461 Citations (Scopus)

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

Insulin Resistance
Fatty Liver
Fatty Acids
Glycerol
Oxidative Stress
19 Citations (Scopus)

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

Multiple Sulfatase Deficiency Disease
N-Acetylgalactosamine-4-Sulfatase
Steryl-Sulfatase
Proteins
Leukocytes
2000
28 Citations (Scopus)

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

Phosphatidylcholines
Skeletal Muscle
Fatty Acids
Niacin
Insulin
7 Citations (Scopus)

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

troglitazone
Fructose
Muscle
Rats
Phospholipids
20 Citations (Scopus)

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

long-chain-aldehyde dehydrogenase
Alternative Splicing
Genes
Exons
Sjogren-Larsson Syndrome
34 Citations (Scopus)
long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Aldehydes
Ether
Radioactivity
2 Citations (Scopus)

Peroxisome 1, 2, 3 ...

Rizzo, W. B., Mar 21 2000, In : Annals of Neurology. 47, 3, p. 281-283 3 p.

Research output: Contribution to journalEditorial

Zellweger Syndrome
Peroxisomal Disorders
Peroxisomes
8 Citations (Scopus)

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

long-chain-alcohol dehydrogenase
Sjogren-Larsson Syndrome
Neurocutaneous Syndromes
Ichthyosis
Quadriplegia
44 Citations (Scopus)

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

Sjogren-Larsson Syndrome
Fatty Alcohols
Fibroblasts
Plasmas
Alcohols