Simona Bianconi

Simona Bianconi

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Simona Bianconi

Simona Bianconi

Publications by authors named "Simona Bianconi"

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19Publications

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Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.

J Dev Behav Pediatr 2020 Feb 17. Epub 2020 Feb 17.

Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD.

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http://dx.doi.org/10.1097/DBP.0000000000000785DOI Listing
February 2020

Statins for Smith-Lemli-Opitz syndrome.

Cochrane Libr 2020 ;2020(1)

Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/14651858.cd013521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055734PMC
January 2020

Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1.

CNS Drugs 2019 Jul;33(7):677-683

Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s40263-019-00642-2DOI Listing
July 2019

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.

Mol Genet Metab 2019 04 15;126(4):466-469. Epub 2019 Feb 15.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535124PMC
April 2019

Early Indicators of Creatine Transporter Deficiency.

J Pediatr 2019 03 20;206:283-285. Epub 2018 Dec 20.

National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1016/j.jpeds.2018.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693671PMC
March 2019

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2018 02 11;176(2):386-390. Epub 2017 Dec 11.

Division of Translational Research, Eunice Kennedy Shriver National Institute of Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309987PMC
February 2018

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2017 Oct 10;173(10):2577-2583. Epub 2017 Aug 10.

Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603413PMC
October 2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303568PMC
March 2017

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Am J Med Genet A 2016 08 5;170(8):2060-2068. Epub 2016 May 5.

Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/ajmg.a.37720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028137PMC
August 2016

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

J Neurodev Disord 2016 5;8:12. Epub 2016 Apr 5.

Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 USA.

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http://dx.doi.org/10.1186/s11689-016-9145-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822234PMC
April 2016

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Expert Opin Orphan Drugs 2015 Mar;3(3):267-280

National Institute of Child Health and Human Development, Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, 10 Center Drive, Bld 10, CRC, Rm 2571, Bethesda, MD 20892, .

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http://www.tandfonline.com/doi/full/10.1517/21678707.2015.10
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http://dx.doi.org/10.1517/21678707.2015.1014472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216PMC
March 2015

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Lancet Neurol 2014 Aug 2;13(8):777-87. Epub 2014 Jul 2.

Program on Developmental Endocrinology and Genetics, Eunice Kennedy-Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70142-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139936PMC
August 2014

Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.

JIMD Rep 2012 28;3:45-52. Epub 2011 Sep 28.

Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.

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http://link.springer.com/10.1007/8904_2011_47
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http://dx.doi.org/10.1007/8904_2011_47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509856PMC
February 2013

Adrenal function in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2011 Nov 11;155A(11):2732-8. Epub 2011 Oct 11.

Program in Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.34271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488380PMC
November 2011

Oxidative stress in Niemann-Pick disease, type C.

Mol Genet Metab 2010 Oct-Nov;101(2-3):214-8. Epub 2010 Jul 27.

Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950258PMC
January 2011

Consideration of VACTERL association in patients with trisomy 21.

Clin Dysmorphol 2010 Oct;19(4):209-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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https://insights.ovid.com/crossref?an=00019605-201010000-000
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http://dx.doi.org/10.1097/MCD.0b013e32833b2b9cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933298PMC
October 2010

Ranitidine and late-onset sepsis in the neonatal intensive care unit.

J Perinat Med 2007 ;35(2):147-50

Department of Pediatrics, New York Methodist Hospital, Brooklyn, NY 11215, USA.

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http://dx.doi.org/10.1515/JPM.2007.017DOI Listing
June 2007