Published in J Pediatr on April 01, 1991
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med (1980) 3.74
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science (1984) 3.56
Tyrosine supplementation in the treatment of maternal phenylketonuria. Am J Clin Nutr (1998) 3.19
Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. Proc Natl Acad Sci U S A (1982) 2.81
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J (2001) 2.12
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry (2001) 1.85
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun (1969) 1.82
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab (2008) 1.73
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clin Chem (1996) 1.68
Rat cystathionine beta-synthase. Gene organization and alternative splicing. J Biol Chem (1992) 1.67
Screening the "normal" population in Massachusetts for phenylketonuria. N Engl J Med (1970) 1.66
Do children benefit from mass screening for neuroblastoma? Consensus Statement from the American Cancer Society Workshop on Neuroblastoma Screening. Lancet (1991) 1.65
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet (1991) 1.62
Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch Biochem Biophys (1998) 1.60
Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein. J Biol Chem (1994) 1.57
A study of cardiovascular risk in heterozygotes for homocystinuria. Am J Hum Genet (1981) 1.54
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet (1999) 1.48
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet (1995) 1.44
Cystathionine beta-synthase (human). Methods Enzymol (1987) 1.42
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat (1992) 1.39
Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase. Proc Natl Acad Sci U S A (1983) 1.38
Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med (1977) 1.37
Genetic screening. Adv Hum Genet (1973) 1.36
Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.36
Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. Proc Natl Acad Sci U S A (1987) 1.35
A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites. Nucleic Acids Res (1985) 1.35
Screening for congenital hypothyroidism. Results in the newborn population of New England. JAMA (1978) 1.35
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med (1983) 1.34
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet (1993) 1.34
Pre-ornithine transcarbamylase. Properties of the cytoplasmic precursor of a mitochondrial matrix enzyme. J Biol Chem (1981) 1.31
Parental response to repeat testing of infants with 'false-positive' results in a newborn screening program. Pediatrics (1984) 1.30
Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase. J Biol Chem (1987) 1.29
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet (2001) 1.29
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria. Am J Med (1970) 1.28
The problem of maternal phenylketonuria. Am J Obstet Gynecol (1972) 1.22
Benign methylmalonic aciduria. N Engl J Med (1984) 1.22
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics (1972) 1.21
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet (1988) 1.18
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics (2001) 1.18
Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N Engl J Med (1986) 1.17
Import of rat ornithine transcarbamylase precursor into mitochondria: two-step processing of the leader peptide. J Cell Biol (1987) 1.15
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet (2000) 1.15
Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver. J Biol Chem (1983) 1.14
Maternal phenylketonuria--results of dietary therapy. Am J Obstet Gynecol (1982) 1.14
Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase. J Inorg Biochem (2000) 1.12
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol (1998) 1.11
Isolated persistent hypermethioninemia. Am J Hum Genet (1995) 1.11
Speech and language deficits in early-treated children with galactosemia. J Pediatr (1983) 1.11
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Hum Mol Genet (1994) 1.11
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet (1997) 1.10
The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. Am J Dis Child (1993) 1.10
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
RNA required for import of precursor proteins into mitochondria. Science (1984) 1.08
New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr (1987) 1.08
Prospective study of early neonatal screening for phenylketonuria. N Engl J Med (1981) 1.07
Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria. Pediatrics (1981) 1.07
Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase. Biochemistry (1999) 1.07
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms. Arch Biochem Biophys (1998) 1.06
Routine newborn screening for histidinemia. Clinical and biochemical results. N Engl J Med (1974) 1.06
The New England Maternal PKU Project: identification of at-risk women. Am J Public Health (1988) 1.05
Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis (2011) 1.05
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. J Clin Invest (1995) 1.05
Newborn screening for galactosemia and other galactose metabolic defects. J Pediatr (1978) 1.05
Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome. J Inherit Metab Dis (1980) 1.05
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Hum Mutat (1995) 1.03
Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization. Protein Expr Purif (1994) 1.03
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet (2000) 1.02
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet (1995) 1.02
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. Am J Hum Genet (1989) 1.01
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study. N Engl J Med (1971) 1.01
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Hum Mol Genet (1994) 1.00
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet (1987) 1.00
Molecular defect in a patient with pyridoxine-responsive homocystinuria. Hum Mol Genet (1993) 0.99
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med (1983) 0.99
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics (1992) 0.99
Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver. Pediatr Res (1972) 0.99
Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects. Ann N Y Acad Sci (1986) 0.99
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. J Pediatr (1978) 0.99
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. Am J Hum Genet (1984) 0.99
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol (1986) 0.98
Speech and histidinemia: methodology and evaluation of four cases. Dev Med Child Neurol (1970) 0.98
The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur J Hum Genet (1994) 0.97
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. Am J Ophthalmol (1984) 0.97
Functional properties of the active core of human cystathionine beta-synthase crystals. J Biol Chem (2001) 0.96
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy. N Engl J Med (1985) 0.96
Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med (1999) 0.96
Delta-aminolevulinate increases heme saturation and yield of human cystathionine beta-synthase expressed in Escherichia coli. Arch Biochem Biophys (1995) 0.95
Meningitis in neonates due to Proteus mirabilis. Am J Dis Child (1967) 0.95
Partial biotinidase deficiency: clinical and biochemical features. J Pediatr (1990) 0.95
Concerning amino acids in human saliva. Experientia (1968) 0.95
Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy. J Pediatr (1993) 0.94
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics (1999) 0.94
Necessity of complete intake of phenylalanine-free amino acid mixture for metabolic control of phenylketonuria. J Am Diet Assoc (1999) 0.94
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metab Biol (1991) 0.94
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat (2001) 0.94