Harvey Levy

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Newborn screening for metabolic disorders
    Deborah Marsden
    Division of Genetics, Children s Hospital Boston, MA 02115, USA
    J Pediatr 148:577-584. 2006
  2. ncbi request reprint Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment
    Harvey Levy
    Harvard Medical School, Boston, MA, USA
    Mol Genet Metab 92:287-91. 2007
  3. doi request reprint Newborn screening conditions: What we know, what we do not know, and how we will know it
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Massachusetts 02115, USA
    Genet Med 12:S213-4. 2010
  4. ncbi request reprint Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
    Harvey L Levy
    Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    Lancet 370:504-10. 2007
  5. ncbi request reprint Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders
    Susan E Waisbren
    Children s Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
    J Pediatr Psychol 29:565-70. 2004
  6. ncbi request reprint Historical background for the maternal PKU syndrome
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Pediatrics 112:1516-8. 2003
  7. ncbi request reprint Expanded newborn screening using tandem mass spectrometry
    Marsha K Fearing
    Harvard Medical School Program in Genetics, Boston, Mass, USA
    Adv Pediatr 50:81-111. 2003
  8. ncbi request reprint Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    Susan E Waisbren
    Children s Hospital Boston, Mass 02115, USA
    JAMA 290:2564-72. 2003
  9. ncbi request reprint Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema
    Jonathan D Picker
    Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
    J Pediatr 142:349-52. 2003
  10. ncbi request reprint Pregnancy experiences in the woman with mild hyperphenylalaninemia
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 112:1548-52. 2003

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Newborn screening for metabolic disorders
    Deborah Marsden
    Division of Genetics, Children s Hospital Boston, MA 02115, USA
    J Pediatr 148:577-584. 2006
  2. ncbi request reprint Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment
    Harvey Levy
    Harvard Medical School, Boston, MA, USA
    Mol Genet Metab 92:287-91. 2007
    ..These recommendations are intended to provide a basis for the use of sapropterin dihydrochloride in the treatment of PKU but may be altered after close observation of treated patients and carefully performed research...
  3. doi request reprint Newborn screening conditions: What we know, what we do not know, and how we will know it
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Massachusetts 02115, USA
    Genet Med 12:S213-4. 2010
    ..Upon the outcome, this critical effort will depend on the health and well-being of children throughout the United States...
  4. ncbi request reprint Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
    Harvey L Levy
    Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    Lancet 370:504-10. 2007
    ..We aimed to test the efficacy of sapropterin, a synthetic form of tetrahydrobiopterin (BH4), for reduction of blood phenylalanine concentration...
  5. ncbi request reprint Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders
    Susan E Waisbren
    Children s Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
    J Pediatr Psychol 29:565-70. 2004
    ..To examine predictors of parenting stress in parents whose children were diagnosed with a biochemical genetic disorder clinically or through newborn screening...
  6. ncbi request reprint Historical background for the maternal PKU syndrome
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Pediatrics 112:1516-8. 2003
    ..To provide information on the history of maternal phenylketonuria...
  7. ncbi request reprint Expanded newborn screening using tandem mass spectrometry
    Marsha K Fearing
    Harvard Medical School Program in Genetics, Boston, Mass, USA
    Adv Pediatr 50:81-111. 2003
  8. ncbi request reprint Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    Susan E Waisbren
    Children s Hospital Boston, Mass 02115, USA
    JAMA 290:2564-72. 2003
    ..Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program...
  9. ncbi request reprint Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema
    Jonathan D Picker
    Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
    J Pediatr 142:349-52. 2003
    ..The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects...
  10. ncbi request reprint Pregnancy experiences in the woman with mild hyperphenylalaninemia
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 112:1548-52. 2003
    ..A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report...
  11. ncbi request reprint Fetal fatty acid oxidation defects and maternal liver disease in pregnancy
    Marsha F Browning
    Harvard Medical School, Massachusetts General Hospital, Children s Hospital Boston, Brigham and Women s Hospital, MA 02114, USA
    Obstet Gynecol 107:115-20. 2006
    ....
  12. ncbi request reprint The clinical aspects of newborn screening: importance of newborn screening follow-up
    Philip M James
    Division of Genetics, Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Ment Retard Dev Disabil Res Rev 12:246-54. 2006
    ..The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by newborn screening. Only with such data can newborn screening fully serve families...
  13. pmc The adult galactosemic phenotype
    Susan E Waisbren
    Children s Hospital Boston, Boston, MA, USA
    J Inherit Metab Dis 35:279-86. 2012
    ..Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression...
  14. doi request reprint Newborn screening of lysosomal storage disorders
    Deborah Marsden
    Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Clin Chem 56:1071-9. 2010
    ..Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs)...
  15. ncbi request reprint Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis
    Susan E Waisbren
    Children s Hospital Boston, 1 Autumn Street, Room 525, Boston, MA 02115, USA
    Mol Genet Metab 92:63-70. 2007
    ..In conclusion, these results confirm a significant correlation between blood Phe level and IQ in patients with PKU, and support the use of Phe as a predictive biomarker for IQ in clinical trials...
  16. ncbi request reprint Lessons from the past--looking to the future. Newborn screening
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA
    Pediatr Ann 32:505-8. 2003
    ..Our challenge now is to use the experience we have from the previous bad judgements to guarantee future good judgements...
  17. ncbi request reprint Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12
    Sharon E Smith
    Division of Genetics, Children s Hospital Boston, MA 02115, USA
    Mol Genet Metab 88:138-45. 2006
    ..This is especially important now that the presymptomatic detection of cblC disorder is possible through the expansion of newborn screening...
  18. ncbi request reprint Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome
    Flemming Guttler
    Department of Inherited Metabolic Disease and Molecular Genetics, The John F Kennedy Institute, Glostrup, Denmark
    Pediatrics 112:1530-3. 2003
    ....
  19. ncbi request reprint Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
    Steven F Dobrowolski
    Idaho Technology, 390 Wakara Way, Salt Lake City, UT 84108, USA
    Mol Genet Metab 91:218-27. 2007
    ..Two mutations were identified in 93 of the 95 patients assessed and in the remaining two patients a single mutation was identified. Melt profiling provided 99% sensitivity to identify sequence variants in the PAH gene...
  20. ncbi request reprint Pericardial effusion in primary systemic carnitine deficiency
    Duangrurdee Wattanasirichaigoon
    Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    J Inherit Metab Dis 29:589. 2006
    ..Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient...
  21. ncbi request reprint Metabolic disorders in the center of genetic medicine
    Harvey L Levy
    N Engl J Med 353:1968-70. 2005
  22. ncbi request reprint Expanded screening of newborns for genetic disorders
    Susan E Waisbren
    JAMA 291:820-1; author reply 821. 2004
  23. ncbi request reprint Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
    Jennifer R Toone
    Department of Pediatrics, University of British Columbia, and Biochemical Genetics Laboratory, B C s Children s Hospital, Vancouver, BC, Canada
    Mol Genet Metab 79:272-80. 2003
    ..The co-occurrence of the polymorphism E211K with the mutation R320H in patients with a severe phenotype is discussed...
  24. ncbi request reprint Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap
    S Harvey Mudd
    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
    Mol Genet Metab 79:6-16. 2003
    ....
  25. ncbi request reprint Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency
    Darren J Fowler
    Lancet 359:628. 2002