Publications by authors named "Harvey L Levy"

57Publications

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.

Mol Genet Metab Rep 2020 Mar 10;22:100555. Epub 2020 Jan 10.

Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957825PMC
March 2020

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Mol Genet Metab 2019 12 14;128(4):415-421. Epub 2019 Sep 14.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.09.004DOI Listing
December 2019

Can Newborn Screening for Vitamin B Deficiency be Incorporated into All Newborn Screening Programs?

J Pediatr 2020 01 12;216:9-11.e1. Epub 2019 Oct 12.

Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.08.061DOI Listing
January 2020

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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http://dx.doi.org/10.1002/jmd2.12018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818PMC
March 2019

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Mol Genet Metab 2019 04 22;126(4):368-376. Epub 2019 Jan 22.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.016DOI Listing
April 2019

Revising the Psychiatric Phenotype of Homocystinuria.

Genet Med 2019 08 15;21(8):1827-1831. Epub 2019 Jan 15.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/s41436-018-0419-4
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http://dx.doi.org/10.1038/s41436-018-0419-4DOI Listing
August 2019

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in .

Mol Genet Metab Rep 2019 Mar 29;18:14-18. Epub 2018 Dec 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312870PMC
March 2019

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

Mol Genet Metab 2018 08 9;124(4):223-229. Epub 2018 Jun 9.

Department of Human Genetics, McGill University, Montreal, Quebec H3A 0C7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.002DOI Listing
August 2018

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Pediatr Emerg Care 2017 Apr;33(4):296-301

From the *Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001093DOI Listing
April 2017

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Pediatr Emerg Care 2017 Feb;33(2):142-146

*Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001028DOI Listing
February 2017

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

J Inherit Metab Dis 2017 03 4;40(2):209-218. Epub 2017 Jan 4.

Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, 1 Autumn Street, Rm 526.1, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10545-016-0004-4DOI Listing
March 2017

Confounding factors in identification of disease-resilient individuals.

Nat Biotechnol 2016 11;34(11):1103-1104

Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/nbt.3684DOI Listing
November 2016

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

Am J Clin Nutr 2016 Aug 13;104(2):334-45. Epub 2016 Jul 13.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.3945/ajcn.116.135293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962165PMC
August 2016

The remarkable S. Harvey Mudd - A reminiscence.

Authors:
Harvey L Levy

Mol Genet Metab 2016 07 27;118(3):143-4. Epub 2016 Apr 27.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.04.013DOI Listing
July 2016

Hyperphenylalaninemia and the genomic revolution.

Mol Genet Metab 2015 Mar 20;114(3):380-1. Epub 2014 Dec 20.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.12.303DOI Listing
March 2015

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.

Mol Genet Metab 2015 Jan 31;114(1):25-8. Epub 2014 Oct 31.

Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.10.013DOI Listing
January 2015

The complexity of newborn screening follow-up in phenylketonuria.

JIMD Rep 2014 26;17:37-9. Epub 2014 Aug 26.

Division of Genetics, Boston Children's Hospital, Boston, MA, 02115, USA,

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http://dx.doi.org/10.1007/8904_2014_329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241208PMC
November 2014

Newborn screening: the genomic challenge.

Authors:
Harvey L Levy

Mol Genet Genomic Med 2014 Mar;2(2):81-4

Division of Genetics and Genomics, Boston Children's Hospital Boston, Massachusetts ; Department of Pediatrics, Harvard Medical School Boston, Massachusetts.

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http://dx.doi.org/10.1002/mgg3.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960048PMC
March 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.

JPEN J Parenter Enteral Nutr 2015 Sep 11;39(7):875-9. Epub 2014 Mar 11.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1177/0148607114526451DOI Listing
September 2015

Genomics in newborn screening.

J Pediatr 2014 Jan 27;164(1):14-9. Epub 2013 Aug 27.

Division of Genetics, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.07.028DOI Listing
January 2014

Congenital heart disease in maternal PKU.

Authors:
Harvey L Levy

Mol Genet Metab 2012 Dec 12;107(4):648-9. Epub 2012 Oct 12.

Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120037
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http://dx.doi.org/10.1016/j.ymgme.2012.09.027DOI Listing
December 2012

Newborn screening conditions: What we know, what we do not know, and how we will know it.

Authors:
Harvey L Levy

Genet Med 2010 Dec;12(12 Suppl):S213-4

Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d77DOI Listing
December 2010

Phenylketonuria.

Lancet 2010 Oct;376(9750):1417-27

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684820/pdf/ajhg
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http://linkinghub.elsevier.com/retrieve/pii/S014067361060961
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http://dx.doi.org/10.1016/S0140-6736(10)60961-0DOI Listing
October 2010

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Mol Genet Metab 2010 Sep 9;101(1):33-9. Epub 2010 Jun 9.

Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.007DOI Listing
September 2010

The clinical aspects of newborn screening: importance of newborn screening follow-up.

Ment Retard Dev Disabil Res Rev 2006 ;12(4):246-54

Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/mrdd.20120
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http://dx.doi.org/10.1002/mrdd.20120DOI Listing
March 2007

Pericardial effusion in primary systemic carnitine deficiency.

J Inherit Metab Dis 2006 Aug 8;29(4):589. Epub 2006 Jul 8.

Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand,

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http://dx.doi.org/10.1007/s10545-006-0335-7DOI Listing
August 2006

Newborn screening for metabolic disorders.

J Pediatr 2006 May;148(5):577-584

Division of Genetics, Children's Hospital Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jpeds.2005.12.021DOI Listing
May 2006

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

Mol Genet Metab 2006 Jun 30;88(2):138-45. Epub 2006 Mar 30.

Division of Genetics, Children's Hospital Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.02.007DOI Listing
June 2006

The use of betaine in the treatment of elevated homocysteine.

Mol Genet Metab 2006 Jul 20;88(3):201-7. Epub 2006 Mar 20.

Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.02.004DOI Listing
July 2006

Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.

J Child Neurol 2005 Oct;20(10):826-8

Division of Genetics and metabolism, Harvard Medical School and Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/08830738050200100901DOI Listing
October 2005

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.

Obstet Gynecol 2006 Jan;107(1):115-20

Harvard Medical School, Massachusetts General Hospital, Children's Hospital Boston, Brigham and Women's Hospital, MA 02114, USA.

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https://www.fodsupport.org/documents/ObandGynPaper.pdf
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/01.AOG.0000191297.47183.bdDOI Listing
January 2006

Metabolic disorders in the center of genetic medicine.

Authors:
Harvey L Levy

N Engl J Med 2005 Nov;353(18):1968-70

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http://dx.doi.org/10.1056/NEJMe058227DOI Listing
November 2005

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

J Pediatr Psychol 2004 Oct;29(7):565-70

Children's Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1093/jpepsy/jsh058DOI Listing
October 2004

Expanded screening of newborns for genetic disorders.

JAMA 2004 Feb;291(7):820-1; author reply 821

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http://dx.doi.org/10.1001/jama.291.7.820-cDOI Listing
February 2004

Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Pediatrics 2003 Dec;112(6 Pt 2):1548-52

Division of Genetics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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December 2003

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.

Pediatrics 2003 Dec;112(6 Pt 2):1530-3

Department of Inherited Metabolic Disease and Molecular Genetics, The John F. Kennedy Institute, Glostrup, Denmark.

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December 2003

Historical background for the maternal PKU syndrome.

Authors:
Harvey L Levy

Pediatrics 2003 Dec;112(6 Pt 2):1516-8

Division of Genetics, Children's Hospital Boston, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.

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December 2003

Expanded newborn screening using tandem mass spectrometry.

Adv Pediatr 2003 ;50:81-111

Harvard Medical School Program in Genetics, Boston, Mass, USA.

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January 2004

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Mol Genet Metab 2003 Aug;79(4):272-80

Department of Pediatrics, University of British Columbia, and Biochemical Genetics Laboratory, B.C.'s Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/s1096-7192(03)00115-xDOI Listing
August 2003

Lessons from the past--looking to the future. Newborn screening.

Authors:
Harvey L Levy

Pediatr Ann 2003 Aug;32(8):505-8

Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.3928/0090-4481-20030801-07DOI Listing
August 2003

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Mol Genet Metab 2003 May;79(1):6-16

NIMH/DIRP/LMB, Laboratory of Molecular Biology, National Institute of Mental Health, Building 36, Room 1B-08, 36 Convent Drive, MSC 4034, Bethesda, MD 20892-4034, USA.

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http://dx.doi.org/10.1016/s1096-7192(03)00066-0DOI Listing
May 2003

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

J Pediatr 2003 Mar;142(3):349-52

Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA.

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http://dx.doi.org/10.1067/mpd.2003.97DOI Listing
March 2003