Výsledky vyhledávání - "William B Rizzo"

Akademický článek

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

Autor: Eric T Rush, Julianne E Hartmann, Jill C Skrabal, William B Rizzo

Publikováno v: SAGE Open Medical Case Reports, Vol 2 (2014)

Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illus

Externí odkaz: https://doaj.org/article/2d5c657000b143cc8c4d9db858c55ca5

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Akademický článek

Pangenome graphs improve the analysis of structural variants in rare genetic diseases

Autor: Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

Abstract Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical next-generation sequencing due to the difficulty of detecting structural variation (SV) in all genomic contexts. Long-read, high fidelity genome seq

Externí odkaz: https://doaj.org/article/7e47b2f69dc14f2886381cefa394ddd5

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Akademický článek

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Autor: Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101030- (2024)

Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in DHCR7,

Externí odkaz: https://doaj.org/article/0fea127efea94b38b9c1c3a83f58aab3

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Akademický článek

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis o

Externí odkaz: https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e

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Akademický článek

Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways

Autor: Hongying Daisy Dai, Fang Qiu, Kimberly Jackson, Marcus Fruttiger, William B. Rizzo

Publikováno v: Metabolites, Vol 13, Iss 6, p 682 (2023)

Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which

Externí odkaz: https://doaj.org/article/12052040b59b4af988af169ba38a3328

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Akademický článek

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

Autor: William B. Rizzo, Dana S'aulis, Elizabeth Dorwart, Zachary Bailey

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100839- (2022)

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disease caused by mutations in ALDH3A2 that result in deficient fatty aldehyde dehydrogenase (FALDH) activity and impaired fatty aldehyde and fatty alcohol oxidation. The pathogenesis of SLS is thou

Externí odkaz: https://doaj.org/article/d3b8a41fe9b441cf983ce1fa3e5bf914

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Akademický článek

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Autor: Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100694- (2020)

Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs

Externí odkaz: https://doaj.org/article/16075265bf244d0896a01a56d9b2f300

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Akademický článek

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

Autor: Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo

Publikováno v: International Journal of Neonatal Screening, Vol 8, Iss 2, p 29 (2022)

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two n

Externí odkaz: https://doaj.org/article/41e28ecea72444f0995ecb5c3c0435e1

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Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients

Autor: William B. Rizzo, Henry Houlden, Perumal Varalakshmi, Reetu Singh, Balasubramaniem Ashokkumar, Markus A. Keller, Varunvenkat M Srinivasan, Vykuntaraju K. Gowda, Sellamuthu Karthi, Mohan Rajeshwari, Stephanie Efthymiou

Publikováno v: Human Mutation. 42:1015-1029

Mutations in ALDH3A2 cause Sjogren-Larsson Syndrome (SLS), a neuro-ichthyotic condition that is caused by deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cb988258a629c454b20ddb766d37a1
https://doi.org/10.1002/humu.24236

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Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Autor: Martin Lammens, Gert Van Goethem, Michèl A.A.P. Willemsen, Bram Heijs, Marjolein Breur, Martin Giera, Mia L. Pras-Raves, Pippa Staps, Marianna Bugiani, Ron A. Wevers, Marinette van der Graaf, Annemieke Groen, William B. Rizzo, Frédéric M. Vaz, Antoine H. C. van Kampen, Sacha Ferdinandusse

Publikováno v: Journal of Inherited Metabolic Disease
Staps, P, Rizzo, W B, Vaz, F M, Bugiani, M, Giera, M, Heijs, B, van Kampen, A H C, Pras-Raves, M L, Breur, M, Groen, A, Ferdinandusse, S, van der Graaf, M, Van Goethem, G, Lammens, M, Wevers, R A & Willemsen, M A A P 2020, ' Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1265-1278 . https://doi.org/10.1002/jimd.12275
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. Springer Netherlands
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. WILEY
Journal of Inherited Metabolic Disease, 43, 6, pp. 1265-1278
Journal of Inherited Metabolic Disease, 43, 1265-1278
Journal of inherited metabolic disease, 43(6), 1265-1278. Springer Netherlands

Contains fulltext : 229584.pdf (Publisher’s version ) (Open Access) Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781e1d007f55fc9568293faf0b68d494
http://www.scopus.com/inward/record.url?scp=85087697934&partnerID=8YFLogxK

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