Professor, Pediatrics, University of Nebraska Medical Center College of Medicine

Pediatrics

William Rizzo practices Pediatrics. He went to University of Illinois College of Medicine. William Rizzo is a published doctor and has 63 publications published. The lastest was: 'Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polyd...'

Publications

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• Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
• Novel mutation in sjogren-larsson syndrome is associated with divergent neurologic phenotypes.
• Fatty aldehyde and fatty alcohol metabolism: Review and importance for epidermal structure and function.
• Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia.
• Large contiguous gene deletions in Sjögren-Larsson syndrome.
• The role of fatty aldehyde dehydrogenase in epidermal structure and function.
• Meeting report from Frontiers in Ichthyosis Research.
• Mitochondrial fatty-acid oxidation disorders.
• Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
• Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
• Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome.
• Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
• Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
• Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.
• Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
• Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids.
• Changes in phosphatidylcholine fatty acid composition are associated with altered skeletal muscle insulin responsiveness in normal man.
• Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydr...
• Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step...
• Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
• Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.
• Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polyd...
• Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes.
• Isolation and characterization of a Chinese hamster ovary cell line deficient in fatty alcohol:NAD+ oxidoreductase activity.
• Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
• Sjögren-Larsson syndrome: explaining the skin-brain connection.
• Dietary erucic acid therapy for X-linked adrenoleukodystrophy.
• Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization.
• Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).
• Sjögren-Larsson syndrome: case reports.
• Sjögren-Larsson syndrome.
• Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.
• Unsuccessful dietary treatment of Sjögren-Larsson syndrome.
• Sjögren-Larsson syndrome: technique and timing of prenatal diagnosis.
• [Sjögren-Larsson syndrome].
• Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.
• Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid.
• Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
• Proton MR spectroscopy of Sjögren-Larsson's syndrome.
• Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.
• Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata.
• Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity.
• Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle.
• Clinical variation in X-linked adrenoleukodystrophy: fatty acid and lipid metabolism in cultured fibroblasts.
• Inherited disorders of fatty alcohol metabolism.
• A common deletion mutation in European patients with Sjögren-Larsson syndrome.
• Carrier detection for Sjögren-Larsson syndrome.
• Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase acti...
• Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.
• Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid.
• Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.
• Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
• Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson synd...
• Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.
• Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
• Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene.
• Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.
• Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma.
• Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.
• The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
• Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
• Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Schools

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• University Of Illinois College Of Medicine Chicago

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics

Accepted Insurances

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Education

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• Johns Hopkins University
• University of Illinois College of Medicine

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