Benign methylmalonic aciduria.

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. Proc Natl Acad Sci U S A (1988) 1.61

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am J Hum Genet (1990) 1.35

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet (1988) 1.14

The impact of screening for propionic and methylmalonic acidaemia. Eur J Pediatr (2003) 0.99

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. J Clin Invest (1992) 0.91

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Hum Mutat (2010) 0.89

Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. Indian J Crit Care Med (2015) 0.81

Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report. Acta Neuropathol (1993) 0.79

Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics (2012) 0.77

Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. Proc Natl Acad Sci U S A (1996) 0.76

Increased urine methylmalonic acid excretion in infants with apnoeas. J Inherit Metab Dis (1998) 0.75

Phase I safety and pharmacokinetic study of recombinant human anti-vascular endothelial growth factor in patients with advanced cancer. J Clin Oncol (2001) 4.97

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry (1985) 4.78

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60

Reflections on the cognitive--learning trend in psychotherapy. Am Psychol (1977) 4.47

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med (1978) 4.34

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77

Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med (1980) 3.74

Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem (2001) 3.37

Tyrosine supplementation in the treatment of maternal phenylketonuria. Am J Clin Nutr (1998) 3.19

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry (1986) 2.49

Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29

Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc Natl Acad Sci U S A (1991) 2.19

Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics (1988) 2.16

The natural history of the inherited methylmalonic acidemias. N Engl J Med (1983) 2.12

Allogeneic hematopoietic stem cell transplantation and norovirus gastroenteritis: a previously unrecognized cause of morbidity. Clin Infect Dis (2009) 2.04

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. Genomics (1989) 1.98

Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis. Neurology (2002) 1.92

Induction of classical transplantation tolerance in the adult. J Exp Med (1989) 1.91

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res (1987) 1.86

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun (1969) 1.82

Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun (1972) 1.79

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79

Apolipoprotein E genes in Lewy body and Parkinson's disease. Lancet (1994) 1.77

Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood (1980) 1.73

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

Disruption of phase during PCR amplification and cloning of heterozygous target sequences. Nucleic Acids Res (1990) 1.72

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest (1975) 1.70

Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. N Engl J Med (1976) 1.69

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clin Chem (1996) 1.68

Screening the "normal" population in Massachusetts for phenylketonuria. N Engl J Med (1970) 1.66

In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood. N Engl J Med (1974) 1.65

Do children benefit from mass screening for neuroblastoma? Consensus Statement from the American Cancer Society Workshop on Neuroblastoma Screening. Lancet (1991) 1.65

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child (1969) 1.65

Low molecular weight RNA species from chromatin. Biochemistry (1975) 1.62

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A (1975) 1.62

Inflammation, homocysteine, and vitamin B6 status after ischemic stroke. Stroke (2003) 1.60

Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases. Proc Natl Acad Sci U S A (1987) 1.59

Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol (1979) 1.59

Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. N Engl J Med (1987) 1.58

A study of cardiovascular risk in heterozygotes for homocystinuria. Am J Hum Genet (1981) 1.54

Tetanus toxin interactions with thyroid plasma membranes. Implications for structure and function of tetanus toxin receptors and potential pathophysiological significance. J Biol Chem (1977) 1.53

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet (1976) 1.52

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet (1978) 1.51

Urinary screening tests for fetal Down syndrome: I. Fresh beta-core fragment. Prenat Diagn (1999) 1.50

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA (1986) 1.50

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41) Prenat Diagn (1991) 1.49

Fetal blood drawing. Lancet (1975) 1.49

Thyrotropin-ganglioside interactions and their relationship to the structure and function of thyrotropin receptors. Proc Natl Acad Sci U S A (1976) 1.48

A new xenograft model of myeloma bone disease demonstrating the efficacy of human mesenchymal stem cells expressing osteoprotegerin by lentiviral gene transfer. Leukemia (2007) 1.47

Gene transfer and expression of human phenylalanine hydroxylase. Science (1985) 1.46

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest (1994) 1.46

Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. N Engl J Med (1977) 1.45

Retroviral gene transfer into primary hepatocytes: implications for genetic therapy of liver-specific functions. Proc Natl Acad Sci U S A (1987) 1.44

Fetal haemorrhagic lesions after chorionic villous sampling. Lancet (1992) 1.43

A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43

Cobalamin deficiency associated with methylmalonic acidemia in a cat. J Am Vet Med Assoc (1992) 1.40

Normal nuchal thickness in the midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results. Am J Obstet Gynecol (1995) 1.39

Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities. Obstet Gynecol (1990) 1.39

Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization. Prenat Diagn (2000) 1.39

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. Proc Natl Acad Sci U S A (1975) 1.39

Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med (1977) 1.37

Genetic screening. Adv Hum Genet (1973) 1.36

Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 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

CD4 monoclonal antibody pairs for immunosuppression and tolerance induction. Eur J Immunol (1987) 1.31

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet (2007) 1.31

Parental response to repeat testing of infants with 'false-positive' results in a newborn screening program. Pediatrics (1984) 1.30

Characterization of a messenger RNA polynucleotide vaccine vector. Cancer Res (1995) 1.30

A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria. Am J Med (1970) 1.28

Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochem Biophys Res Commun (1971) 1.28

A prospective evaluation of a triple-drug regimen containing cisplatin, vinblastine, and dacarbazine (CVD) for metastatic melanoma. Cancer (1989) 1.27

Arachidonic acid prevents hyperglycemia-associated yolk sac damage and embryopathy. Am J Obstet Gynecol (1986) 1.26

Rhabdomyosarcoma of the nose and paranasal sinuses in adults and children. Otolaryngol Head Neck Surg (1995) 1.24

Homology between phenylalanine and tyrosine hydroxylases reveals common structural and functional domains. Biochemistry (1985) 1.24

A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method. Clin Chim Acta (1979) 1.24

Fetal cystic hygroma. Cause and natural history. N Engl J Med (1983) 1.23

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr (1987) 1.22

Relative efficacy of self-reward, self-punishment, and self-monitoring techniques for weight loss. J Consult Clin Psychol (1973) 1.22

The problem of maternal phenylketonuria. Am J Obstet Gynecol (1972) 1.22

Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics (1972) 1.21

D-lactic acidosis simulating a hypothalamic syndrome after bowel bypass. Ann Neurol (1982) 1.20

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics (2001) 1.18

Primary structure and activity of mouse methylmalonyl-CoA mutase. Biochem J (1990) 1.18

Deafness from furosemide. Ann Intern Med (1970) 1.18

Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. J Clin Invest (1976) 1.17

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N Engl J Med (1986) 1.17

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16

Galactosemia screening of newborns in Massachusetts. N Engl J Med (1971) 1.16

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet (2000) 1.15

Electron microscopy of human skin fibroblasts in situ during growth in culture. Exp Cell Res (1975) 1.14

Sensitivity and specificity of pooled versus individual sera in a human immunodeficiency virus antibody prevalence study. J Clin Microbiol (1989) 1.14

Maternal phenylketonuria--results of dietary therapy. Am J Obstet Gynecol (1982) 1.14

Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab (1998) 1.14

Argininosuccinase activity in amniotic-fluid cells. Lancet (1970) 1.13