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Items: 1 to 50 of 107

1.

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study.

Bose M, Mahadevan M, Schules DR, Coleman RK, Gawron KM, Gamble MB, Roullet JB, Gibson KM, Rizzo WB.

Mol Genet Metab Rep. 2019 Feb 14;19:100459. doi: 10.1016/j.ymgmr.2019.100459. eCollection 2019 Jun.

2.

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA.

Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26.

PMID:
30372562
3.

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 ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]

4.

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 JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N.

Mol Genet Metab. 2018 Nov;125(3):217-227. doi: 10.1016/j.ymgme.2018.06.010. Epub 2018 Aug 23.

PMID:
30146451
5.

Neuro-ichthyotic Syndromes: A Case Series.

Incecık F, Herguner OM, Ozbek MN, Gungor S, Yılmaz M, Rizzo WB, Mert GG.

J Pediatr Neurosci. 2018 Jan-Mar;13(1):34-38. doi: 10.4103/JPN.JPN_54_17.

6.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH.

Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8.

PMID:
29419819
7.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A, Barzgar M, Bozorgmehr B, Keshavarz E, Kariminejad MH, S'Aulis D, Rizzo WB.

Eur J Med Genet. 2018 Mar;61(3):139-144. doi: 10.1016/j.ejmg.2017.11.006. Epub 2017 Nov 26.

PMID:
29183715
8.

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Rush ET, Baker CV, Rizzo WB.

Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287.

PMID:
28816422
9.

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

Hidalgo ET, Orillac C, Hersh A, Harter DH, Rizzo WB, Weiner HL.

J Child Neurol. 2017 Jan;32(1):100-103. doi: 10.1177/0883073816671440. Epub 2016 Oct 6.

10.

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Rizzo WB.

Expert Opin Orphan Drugs. 2016 Apr;4(4):395-406. Epub 2016 Mar 10.

11.

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

Rush ET, Goodwin JL, Braverman NE, Rizzo WB.

Mol Genet Metab Rep. 2016 May 23;7:94-5. doi: 10.1016/j.ymgmr.2016.05.004. eCollection 2016 Jun. No abstract available.

12.

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M.

Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Review.

13.

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

Rush ET, Goodwin JL, Braverman NE, Rizzo WB.

Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24.

PMID:
26643206
14.

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.

Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E.

Ophthalmology. 2015 Aug;122(8):1730-2. doi: 10.1016/j.ophtha.2015.02.003. Epub 2015 Mar 14. No abstract available.

15.

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review.

16.

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

Rush ET, Hartmann JE, Skrabal JC, Rizzo WB.

SAGE Open Med Case Rep. 2014 Jul 31;2:2050313X14546348. doi: 10.1177/2050313X14546348. eCollection 2014.

17.

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Incecık F, Herguner OM, Rizzo WB, Altunbasak S.

Ann Indian Acad Neurol. 2013 Jul;16(3):425-7. doi: 10.4103/0972-2327.116927.

18.

Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.

Rizzo WB.

Biochim Biophys Acta. 2014 Mar;1841(3):377-89. doi: 10.1016/j.bbalip.2013.09.001. Epub 2013 Sep 12. Review.

19.

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 WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L.

Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11.

20.

Complications of ichthyosis beyond the skin.

Diaz LZ, Browning JC, Smidt AC, Rizzo WB, Levy ML.

Dermatol Ther. 2013 Jan-Feb;26(1):39-45. doi: 10.1111/j.1529-8019.2012.01517.x. Review.

PMID:
23384019
21.

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.

J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3.

22.

Recognition and diagnosis of neuro-ichthyotic syndromes.

Rizzo WB, Jenkens SM, Boucher P.

Semin Neurol. 2012 Feb;32(1):75-84. doi: 10.1055/s-0032-1306390. Epub 2012 Mar 15. Review.

23.

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

Mohebbi MR, Rush ET, Rizzo WB, Banagale RC.

J Child Neurol. 2012 Dec;27(12):1589-92. doi: 10.1177/0883073811435918. Epub 2012 Feb 28.

PMID:
22378672
24.

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS.

Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17.

25.

The role of fatty aldehyde dehydrogenase in epidermal structure and function.

Rizzo WB.

Dermatoendocrinol. 2011 Apr;3(2):91-9. doi: 10.4161/derm.3.2.14619. Epub 2011 Apr 1.

26.

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.

Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.

27.

Meeting report from Frontiers in Ichthyosis Research.

Milstone LM, Rizzo WB, Pickford JR.

J Invest Dermatol. 2011 Feb;131(2):279-82. doi: 10.1038/jid.2010.338. No abstract available.

28.

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM.

Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y. Epub 2010 Jan 5.

29.

Mitochondrial fatty-acid oxidation disorders.

Kompare M, Rizzo WB.

Semin Pediatr Neurol. 2008 Sep;15(3):140-9. doi: 10.1016/j.spen.2008.05.008. Review.

PMID:
18708005
30.

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.

Rizzo WB, Craft DA, Somer T, Carney G, Trafrova J, Simon M.

J Lipid Res. 2008 Feb;49(2):410-9. Epub 2007 Oct 30.

31.

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.

J Hum Genet. 2007;52(10):865-70.

32.
33.

Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome.

Auada MP, Adam RL, Leite NJ, Puzzi MB, Cintra ML, Rizzo WB, Metze K.

Anal Quant Cytol Histol. 2006 Aug;28(4):219-27.

34.

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.

Auada MP, Puzzi MB, Cintra ML, Steiner CE, Alexandrino F, Sartorato EL, Aguiar TS, Azulay RD, Carney G, Rizzo WB.

Br J Dermatol. 2006 Apr;154(4):770-3. No abstract available.

35.

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.

Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H.

Arch Neurol. 2006 Feb;63(2):278-80.

36.
37.
38.

Unusual clinical presentation in two cases of multiple sulfatase deficiency.

Blanco-Aguirre ME, Kofman-Alfaro SH, Rivera-Vega MR, Medina C, Valdes-Flores M, Rizzo WB, Cuevas-Covarrubias SA.

Pediatr Dermatol. 2001 Sep-Oct;18(5):388-92.

PMID:
11737681
39.

Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.

Rizzo WB, Lin Z, Carney G.

Chem Biol Interact. 2001 Jan 30;130-132(1-3):297-307.

PMID:
11306053
40.

Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities.

Sanyal AJ, Campbell-Sargent C, Mirshahi F, Rizzo WB, Contos MJ, Sterling RK, Luketic VA, Shiffman ML, Clore JN.

Gastroenterology. 2001 Apr;120(5):1183-92.

PMID:
11266382
41.
43.

Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene.

Lin Z, Carney G, Rizzo WB.

Mol Genet Metab. 2000 Nov;71(3):496-505.

PMID:
11073717
44.
45.

[Sjögren-Larsson syndrome].

Möhrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lamprecht I, Abeck D, Ring J.

Hautarzt. 2000 Apr;51(4):250-5. German.

PMID:
10810660
46.

Peroxisome 1, 2, 3...

Rizzo WB.

Ann Neurol. 2000 Mar;47(3):281-3. No abstract available.

PMID:
10716245
47.

Changes in phosphatidylcholine fatty acid composition are associated with altered skeletal muscle insulin responsiveness in normal man.

Clore JN, Harris PA, Li J, Azzam A, Gill R, Zuelzer W, Rizzo WB, Blackard WG.

Metabolism. 2000 Feb;49(2):232-8.

PMID:
10690951
48.
49.

Proton MR spectroscopy of Sjögren-Larsson's syndrome.

Mano T, Ono J, Kaminaga T, Imai K, Sakurai K, Harada K, Nagai T, Rizzo WB, Okada S.

AJNR Am J Neuroradiol. 1999 Oct;20(9):1671-3.

50.

Sjögren-Larsson syndrome: explaining the skin-brain connection.

Rizzo WB.

Neurology. 1999 Apr 22;52(7):1307-8. No abstract available.

PMID:
10227610

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