H L Levy
Affiliation: Harvard University
- Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative StudyH L Levy
Division of Genetics and Neuroepidemiology Unit, Children s Hospital, Boston, Massachusetts 02115, USA
Pediatr Res 49:636-42. 2001....
- Tyrosine supplementation in the treatment of maternal phenylketonuriaF J Rohr
Division of Genetics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Clin Nutr 67:473-6. 1998....
- Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative StudyS E Waisbren
Genetic Service, Children s Hospital, Boston, Mass 02115, USA
JAMA 283:756-62. 2000..Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspring. The extent to which this risk is reduced by maternal dietary therapy at various stages of pregnancy is not known...
- Maternal histidinaemia: pregnancies and offspring outcomesH L Levy
Genetic Services, Children s Hospital Boston, Massachusetts 02115, USA
J Inherit Metab Dis 27:197-204. 2004..It would appear that maternal histidinaemia, unlike maternal phenylketonuria, can be added to the list of maternal inborn errors of metabolism that are nonteratogenic...
- Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutationS Z Kim
Korea Genetic Research Center, Cheongju City, Korea
J Inherit Metab Dis 25:661-71. 2002..They have had normal growth and development and have no mental retardation, neurological abnormalities, or other clinical problems. They are the first individuals of Korean descent proven to have MAT I/III deficiency...
- Newborn screening compared to clinical identification of biochemical genetic disordersS E Waisbren
Children s Hospital, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA
J Inherit Metab Dis 25:599-600. 2002..The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs...
- Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiencyH L Levy
Division of Genetics, Children s Hospital s, Boston, MA 02115, USA
J Inherit Metab Dis 25:299-314. 2002..Nevertheless, a cautious approach would include careful monitoring of these pregnancies with attention to metabolic therapy and possibly anticoagulation...
- Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiencyS Albers
Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Inherit Metab Dis 24:417-8. 2001
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsS E Waisbren
Department of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02215, USA
Mol Genet Metab 95:39-45. 2008....
- A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotypeV E Shih
Neurology Service, Massachusetts General Hospital, Boston 02129, USA
Am J Hum Genet 57:34-9. 1995..Compound heterozygous patients who have one copy of this missense mutation are likely to retain some degree of pyridoxine responsiveness...
- Novel mutations in the GALK1 gene in patients with galactokinase deficiencyM Hunter
Centre for Human Genetics, Edith Cowan University, Perth, Western Australia
Hum Mutat 17:77-8. 2001..Some differences with the GALK1 sequence deposited in Genbank are also reported...
- Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferaseJ K Reichardt
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030 3498
Biochemistry 31:5430-3. 1992..Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT...
- Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnanciesS H Mudd
Laboratory of Molecular Biology, National Institute of Mental Health, DIRP, Bethesda, Maryland 20892 4034, USA
J Inherit Metab Dis 26:443-58. 2003..Plasma and urinary concentrations of methionine transamination metabolites rose during pregnancy for reasons that remain obscure...
- Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiencyT Ubagai
Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Invest 96:1943-7. 1995..These results establish the molecular basis of this disorder and allow for the development of DNA-based methodologies to investigate and diagnose hypermethioninemic individuals suspected of having abnormalities at this locus...
- Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemiaS G Khan
Laboratory of Molecular Carcinogenesis, National Cancer Institute, Bethesda, Maryland 20892, USA
J Invest Dermatol 111:791-6. 1998..Normal glycine levels were maintained with oral glycine supplements and his hyperactivity diminished. These data provide evidence of an association of an XPC splice site mutation with autistic neurologic features and hypoglycinemia...
- Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acidsL R Kalsner
Division of Genetics and Department of Neurology, Children's Hospital, Boston, Massachusetts, USA
J Pediatr 139:421-7. 2001..This could explain the lack of consistent neuropsychologic benefit with tyrosine supplementation...
- Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger
Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
Hum Mutat 13:286-9. 1999..The specifically low PTPS activity in the mother's cells corroborated the evidence of a dominant negative effect of the maternal N47D allele on wild-type PTPS...
- A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutationN Dreumont
Laboratory of Cellular and Developmental Genetics, Dept Medicine, Pavillon Marchand, Universite Laval, and Centre de Recherche du CHUQ Pav CHUL, Ste Foy, Quebec, Canada
BMC Genet 2:9. 2001..Analysis of FAH expression in liver sections obtained after resection for hepatocellular carcinoma revealed a mosaic pattern of expression. No FAH was found in tumor regions while a healthy region contained enzyme-expressing nodules...
- Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variationsM E Chamberlin
Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 66:347-55. 2000....
- Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemiaJ K Reichardt
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Texas Medical Center, Houston 77030 3498
Genomics 12:596-600. 1992..These two mutant alleles represent the fifth and sixth galactosemia mutations and confirm the hypothesis that galactosemia results from a multiplicity of mutations at the molecular level...