Affiliation: Harvard University
- Newborn screening for metabolic disordersDeborah Marsden
Division of Genetics, Children s Hospital Boston, MA 02115, USA
J Pediatr 148:577-584. 2006
- Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatmentHarvey 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...
- Newborn screening conditions: What we know, what we do not know, and how we will know itHarvey 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...
- Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled studyHarvey 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...
- Brief report: Predictors of parenting stress among parents of children with biochemical genetic disordersSusan 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...
- Historical background for the maternal PKU syndromeHarvey 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...
- Expanded newborn screening using tandem mass spectrometryMarsha K Fearing
Harvard Medical School Program in Genetics, Boston, Mass, USA
Adv Pediatr 50:81-111. 2003
- Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stressSusan 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...
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJonathan 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...
- Pregnancy experiences in the woman with mild hyperphenylalaninemiaHarvey 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...
- Fetal fatty acid oxidation defects and maternal liver disease in pregnancyMarsha 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....
- The clinical aspects of newborn screening: importance of newborn screening follow-upPhilip 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...
- The adult galactosemic phenotypeSusan 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...
- Newborn screening of lysosomal storage disordersDeborah 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)...
- Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysisSusan 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...
- Lessons from the past--looking to the future. Newborn screeningHarvey 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...
- Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12Sharon 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...
- Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcomeFlemming Guttler
Department of Inherited Metabolic Disease and Molecular Genetics, The John F Kennedy Institute, Glostrup, Denmark
Pediatrics 112:1530-3. 2003....
- 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 profilesSteven 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...
- Pericardial effusion in primary systemic carnitine deficiencyDuangrurdee 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...
- Metabolic disorders in the center of genetic medicineHarvey L Levy
N Engl J Med 353:1968-70. 2005
- Expanded screening of newborns for genetic disordersSusan E Waisbren
JAMA 291:820-1; author reply 821. 2004
- 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...
- Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trapS 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....
- Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiencyDarren J Fowler
Lancet 359:628. 2002