Hetanshi Naik

Hetanshi Naik

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Hetanshi Naik

Hetanshi Naik

Publications by authors named "Hetanshi Naik"

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19Publications

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Knowledge and attitudes on pharmacogenetics among pediatricians.

J Hum Genet 2020 May 27;65(5):437-444. Epub 2020 Jan 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

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http://dx.doi.org/10.1038/s10038-020-0723-0DOI Listing
May 2020

The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.

Mol Genet Metab Rep 2020 Mar 30;22:100567. Epub 2020 Jan 30.

Lysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000790PMC
March 2020

Knowledge and attitudes of Parkinson's disease risk in the Gaucher population.

J Genet Couns 2020 Feb 30;29(1):105-111. Epub 2019 Oct 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1002/jgc4.1185DOI Listing
February 2020

Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study.

Mol Genet Metab 2019 11 26;128(3):314-319. Epub 2019 Jan 26.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660424PMC
November 2019

Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr 2018 11 2;202:320-323.e2. Epub 2018 Jul 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203604PMC
November 2018

Parkinson's disease prevalence in Fabry disease: A survey study.

Mol Genet Metab Rep 2018 Mar 9;14:27-30. Epub 2017 Nov 9.

Department of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683804PMC
March 2018

Acute Intermittent Porphyria in children: A case report and review of the literature.

Mol Genet Metab 2016 12 15;119(4):295-299. Epub 2016 Oct 15.

Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154763PMC
December 2016

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.

Mol Genet Metab 2016 11 24;119(3):278-283. Epub 2016 Aug 24.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, Unites States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083146PMC
http://dx.doi.org/10.1016/j.ymgme.2016.08.006DOI Listing
November 2016

Afamelanotide for Erythropoietic Protoporphyria.

N Engl J Med 2015 Jul;373(1):48-59

The Department of Internal Medicine, Center of Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam (J.G.L., F.P.J.K., E.J.G.S., F.W.M.R., J.H.P.W.), and the Department of Dermatology, Maastricht University Medical Center, Maastricht (J.F.) - both in the Netherlands; the Departments of Genetics and Genomic Sciences (M.B., H.N., R.J.D.) and Dermatology (M.L.), Icahn School of Medicine at Mount Sinai, New York; the Departments of Preventive Medicine and Community Health, and Internal Medicine and the Institute for Translational Sciences, University of Texas Medical Branch, Galveston (K.E.A.); the Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC (H.L.B.); Royal Gwent Hospital, Newport (A.V.A., C.E.), the Centre for Dermatology, University of Manchester, Salford Royal Hospital, Manchester (L.E.R.), and the Ludwig Institute for Cancer Research, Nuffield Department of Medicine, University of Oxford, Oxford (C.R.G.) - all in the United Kingdom; the Department of Medicine, University of California, San Francisco, San Francisco (D.M.B.); the Department of Medicine, University of Alabama, Birmingham (J.B.); the Department of Dermatology, Heinrich Heine University, Duesseldorf, Germany (N.J.N., J.F.); the Department of Internal Medicine, University of Utah, Salt Lake City (C.P., J.D.P.); the Department of Dermatology, Henry Ford Hospital, Detroit (H.W.L., I.H.); Hôpital Louis-Mourier, Hôpitaux Universitaire Paris Nord Val de Seine, Assistance Publique-Hôpitaux de Paris, INSERM Unité 1149, Université Paris Diderot, Colombes, France (J.-C.D.); the Departments of Medicine and Dermatology, University Hospital of Helsinki, Helsinki (R.K.); and the Department of Dermatology, Beaumont Hospital, Dublin (G.M.M.).

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http://dx.doi.org/10.1056/NEJMoa1411481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780255PMC
July 2015

An uncommon 3.4-Mb interstitial deletion at 3q29.

Clin Dysmorphol 2010 Jul;19(3):133-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e3283387b21DOI Listing
July 2010