Publications by authors named "Vu Chi Dung"

30Publications

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.

Diagnostics (Basel) 2020 Sep 24;10(10). Epub 2020 Sep 24.

Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

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http://dx.doi.org/10.3390/diagnostics10100741DOI Listing
September 2020

De novo Mutations in Vietnamese Patients with Cornelia de Lange Syndrome.

Medicina (Kaunas) 2020 Feb 14;56(2). Epub 2020 Feb 14.

Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

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http://dx.doi.org/10.3390/medicina56020076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073647PMC
February 2020

A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.

Adv Exp Med Biol 2020 ;1292:27-35

Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.

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http://dx.doi.org/10.1007/5584_2018_300DOI Listing
January 2020

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

Biol Blood Marrow Transplant 2017 Oct 1;23(10):1795-1803. Epub 2017 Jul 1.

Department of Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2017.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659208PMC
October 2017

An Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):260-264. Epub 2017 Jun 30.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom.

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http://dx.doi.org/10.4274/jcrpe.4624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808PMC
September 2017

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Mol Genet Metab 2017 03 22;120(3):247-254. Epub 2016 Dec 22.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346460PMC
March 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

The clinical features of osteogenesis imperfecta in Vietnam.

Int Orthop 2017 Jan 2;41(1):21-29. Epub 2016 Nov 2.

Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.

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http://dx.doi.org/10.1007/s00264-016-3315-zDOI Listing
January 2017

A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.

Gene 2015 Jul 22;565(2):291-4. Epub 2015 Apr 22.

Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.052DOI Listing
July 2015

Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Mol Genet Metab 2015 Feb 4;114(2):195-202. Epub 2014 Jun 4.

Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256128PMC
February 2015

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Mol Genet Metab 2013 Sep-Oct;110(1-2):129-38. Epub 2013 Jun 26.

Department of Endocrinology, Metabolism & Genetics, Vietnam National Hospital of Pediatrics, Hanoi, Viet Nam.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779837PMC
March 2014

Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.

Gene 2012 Nov 17;509(2):295-7. Epub 2012 Aug 17.

Institute of Biotechnology, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet, Hanoi, Vietnam.

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http://dx.doi.org/10.1016/j.gene.2012.08.009DOI Listing
November 2012

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

Mol Ther 2010 Jun 23;18(6):1094-102. Epub 2010 Mar 23.

Department of Pediatrics, Saint Louis University, St Louis, Missouri 63104, USA.

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http://dx.doi.org/10.1038/mt.2010.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889747PMC
June 2010

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.

J Inherit Metab Dis 2010 Dec 27;33 Suppl 3:S35-42. Epub 2010 Jan 27.

Department of Pediatrics, Saint Louis University Doisy Research Center, 1100 South Grand Blvd, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1007/s10545-009-9013-xDOI Listing
December 2010

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Hum Mutat 2009 Apr;30(4):511-9

Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri 63104, USA.

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http://dx.doi.org/10.1002/humu.20828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048808PMC
April 2009

Enzyme replacement therapy in a murine model of Morquio A syndrome.

Hum Mol Genet 2008 Mar 3;17(6):815-24. Epub 2007 Dec 3.

Department of Pediatrics, St Louis University, Doisy Research Center, 1100 South Grand Blvd., Room 307, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1093/hmg/ddm353DOI Listing
March 2008

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

Mol Genet Metab 2007 Jul 10;91(3):251-8. Epub 2007 May 10.

Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave., St. Louis, MO 63110-2586, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.009DOI Listing
July 2007

Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.

Mol Genet Metab 2007 May 2;91(1):69-78. Epub 2007 Mar 2.

Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110-2586, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.01.004DOI Listing
May 2007

Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

Kobe J Med Sci 2003 ;49(3-4):55-8

Division of Pediatrics, Department of Development and Aging, Kobe University Graduate School of Medicine, Japan.

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June 2004