Publications by authors named "Nicholas J C Smith"

6Publications

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.).

View Article and Find Full Text PDF
October 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:

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
February 2018

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,

View Article and Find Full Text PDF
April 2015