Publications by authors named "Nicholas J Smith"

23Publications

An insight into the corrosion of alkali aluminoborosilicate glasses in acidic environments.

Phys Chem Chem Phys 2020 Jan 8;22(4):1881-1896. Epub 2020 Jan 8.

Department of Materials Science and Engineering, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.

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http://dx.doi.org/10.1039/c9cp06064bDOI Listing
January 2020

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

Topological Control of Water Reactivity on Glass Surfaces: Evidence of a Chemically Stable Intermediate Phase.

J Phys Chem Lett 2019 Jul 2;10(14):3955-3960. Epub 2019 Jul 2.

Department of Materials Science and Engineering , The Pennsylvania State University , University Park , Pennsylvania 16802 , United States.

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http://dx.doi.org/10.1021/acs.jpclett.9b01275DOI Listing
July 2019

Development of highly inhomogeneous temperature profile within electrically heated alkali silicate glasses.

Sci Rep 2019 Feb 26;9(1):2805. Epub 2019 Feb 26.

Department of Materials Science and Engineering, Lehigh University, Bethlehem, PA, 18015, USA.

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http://dx.doi.org/10.1038/s41598-019-39431-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391379PMC
February 2019

Structural and Chemical Approach toward Understanding the Aqueous Corrosion of Sodium Aluminoborate Glasses.

J Phys Chem B 2018 Dec 26;122(48):10913-10927. Epub 2018 Nov 26.

Department of Materials Science and Engineering , Rutgers, The State University of New Jersey , Piscataway , New Jersey 08854 , United States.

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http://dx.doi.org/10.1021/acs.jpcb.8b06155DOI Listing
December 2018

Understanding the structural drivers governing glass-water interactions in borosilicate based model bioactive glasses.

Acta Biomater 2018 Jan 7;65:436-449. Epub 2017 Nov 7.

Department of Materials Science and Engineering, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, United States. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2017.11.006DOI Listing
January 2018

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.

From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).

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http://dx.doi.org/10.1056/NEJMoa1700554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708849PMC
October 2017

Development of an Intelligent Spacer Data Logger System.

J Aerosol Med Pulm Drug Deliv 2017 Dec 28;30(6):444-450. Epub 2017 Aug 28.

2 PS5 Consultants Ltd , Portsmouth, United Kingdom .

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http://www.liebertpub.com/doi/10.1089/jamp.2017.1375
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http://dx.doi.org/10.1089/jamp.2017.1375DOI Listing
December 2017

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy.

Anal Chim Acta 2017 Feb 19;955:79-85. Epub 2016 Dec 19.

Genetics and Molecular Pathology, SA Pathology, at Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2016.12.002DOI Listing
February 2017

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients.

Blood Cells Mol Dis 2018 02 21;68:86-92. Epub 2016 Oct 21.

Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.011DOI Listing
February 2018

Early surgical intervention in type I laryngeal cleft.

Int J Pediatr Otorhinolaryngol 2016 Nov 14;90:236-240. Epub 2016 Sep 14.

Pediatric ENT Associates, Children's of Alabama, Birmingham, AL; Children's of Alabama Aerodigestive Program, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2016.09.017DOI Listing
November 2016

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Am J Med Genet A 2016 11 2;170(11):3033-3038. Epub 2016 Aug 2.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.37853
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http://dx.doi.org/10.1002/ajmg.a.37853DOI Listing
November 2016

The human urothelial tight junction: claudin 3 and the ZO-1α switch.

Bladder (San Franc) 2015;2(1):e9

Jack Birch Unit of Molecular Carcinogenesis, Department of Biology, University of York, York YO10 5DD, United Kingdom.

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http://dx.doi.org/10.14440/bladder.2015.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530542PMC
January 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Universal proteolysis and MS(n) for N- and O-glycan branching analysis.

J Mass Spectrom 2013 Apr;48(4):533-8

National Institute of Standards and Technology, Analytical Chemistry Division, 100 Bureau Dr., Stop 8392, Gaithersburg, MD 20899, USA.

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http://dx.doi.org/10.1002/jms.3196DOI Listing
April 2013

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.

Dev Med Child Neurol 2012 Feb 24;54(2):176-82. Epub 2011 Nov 24.

Lysosomal Diseases Research Group, Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2011.04160.xDOI Listing
February 2012

Toll-like receptor responses of normal human urothelial cells to bacterial flagellin and lipopolysaccharide.

J Urol 2011 Sep 23;186(3):1084-92. Epub 2011 Jul 23.

Jack Birch Unit for Molecular Carcinogenesis, Department of Biology, University of York, York, United Kingdom.

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http://dx.doi.org/10.1016/j.juro.2011.04.112DOI Listing
September 2011

Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy.

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S471-5. Epub 2010 Nov 16.

Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Box 157, Cambridge , CB2 0QQ, UK.

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http://dx.doi.org/10.1007/s10545-010-9240-1DOI Listing
December 2010

The prevalence of newly diagnosed hyperlipidaemia in men with erectile dysfunction.

BJU Int 2007 Aug 5;100(2):357-61. Epub 2007 Jun 5.

Pyrah Department of Urology, St. James's University Hospital, Leeds, West Yorkshire, UK.

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http://doi.wiley.com/10.1111/j.1464-410X.2007.06988.x
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http://dx.doi.org/10.1111/j.1464-410X.2007.06988.xDOI Listing
August 2007