Published in J Clin Invest on August 01, 1969
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Biosynthesis and degradation of saccharopine, an intermediate of lysine metabolism. Biochem J (1973) 1.10
The prognosis of hyperlysinemia: an interim report. Am J Hum Genet (1983) 1.03
Hyperlysinaemia. Harmless inborn error of metabolism? Arch Dis Child (1973) 1.01
Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. J Clin Invest (1973) 0.99
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet (2000) 0.96
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Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthase. Trans Am Clin Climatol Assoc (1986) 0.75
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Protein measurement with the Folin phenol reagent. J Biol Chem (1951) 1743.91
Hyperlysinemia associated with retardation. N Engl J Med (1965) 2.16
Saccharopine, an intermediate of the aminoadipic acid pathway of lysine biosynthesis. IV. Saccharopine dehydrogenase. J Biol Chem (1966) 1.62
Conversion of lysine to saccharopine by human tissues. Biochim Biophys Acta (1968) 1.58
The conversion of lysine to pipecolic acid in the rat. J Biol Chem (1954) 1.56
Further studies of hyperlysinemia. Am J Dis Child (1966) 1.52
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Saccharopinuria: a new inborn error of lysine metabolism. Nature (1968) 1.45
Saccharopine, a product of lysine breakdown by mammalian liver. Biochem Biophys Res Commun (1965) 1.43
A case of hyperlysinemia: biochemical and clinical observations. Pediatrics (1967) 1.20
Paths of lysine degradation in patients with hyperlysinemia. Pediatrics (1967) 1.18
Metabolism of lysine in rat liver. Biochem Biophys Res Commun (1967) 1.07
The metabolism of D- and L-lysine in the intact rat, perfused liver and liver mitochondria. Biochim Biophys Acta (1968) 1.06
Familial dysautonomia: diagnosis, pathogenesis and management. Adv Pediatr (1974) 2.60
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Transfer across the perfused human placenta of antipyrine, sodium and leucine. Am J Obstet Gynecol (1972) 1.98
Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci (1978) 1.87
Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med (1980) 1.60
Conversion of lysine to saccharopine by human tissues. Biochim Biophys Acta (1968) 1.58
Communication between normal and enzyme deficient cells in tissue culture. Exp Cell Res (1972) 1.57
Effect of simple sugars on the morphology and growth pattern of mammalian cell cultures. Proc Natl Acad Sci U S A (1965) 1.56
Fetal homeostasis in maternal malnutrition: potassium and sodium deficiency in rats. Pediatr Res (1970) 1.54
Further studies of hyperlysinemia. Am J Dis Child (1966) 1.52
Studies on the mechanism of hormone induction of alkaline phosphatase in human cell cultures, II. Rate of enzyme synthesis and properties of base level and induced enzymes. Proc Natl Acad Sci U S A (1966) 1.47
Lateral and transverse organisation of cytochromes in the chloroplast thylakoid membrane. Biochem Biophys Res Commun (1981) 1.41
Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease). J Lab Clin Med (1969) 1.40
Transfer of cocaine by the perfused human placenta: the effect of binding to serum proteins. Am J Obstet Gynecol (1993) 1.39
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci (1968) 1.38
Direct measurements of steady-state kinetics of cyanobacterial n(2) uptake by membrane-leak mass spectrometry and comparisons between nitrogen fixation and acetylene reduction. Appl Environ Microbiol (1983) 1.36
Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc Natl Acad Sci U S A (1971) 1.36
Management of breast feeding. How to be a grandmother. J Pediatr (1966) 1.35
Transfer of zidovudine (AZT) by human placenta. J Infect Dis (1990) 1.35
Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. J Biol Chem (1984) 1.32
Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects. Ann N Y Acad Sci (1974) 1.31
Mass Spectrometric Studies of the Effect of pH on the Accumulation of Intermediates in Denitrification by Paracoccus denitrificans. Appl Environ Microbiol (1994) 1.29
Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells. Proc Natl Acad Sci U S A (1970) 1.27
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Am J Hum Genet (1993) 1.25
Production of human chorionic gonadotropin in HeLa cell cultures. Nature (1976) 1.23
Saccharopine cleavage by a dehydrogenase of human liver. Biochim Biophys Acta (1970) 1.22
Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature (1973) 1.21
Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. J Biol Chem (1989) 1.20
Paths of lysine degradation in patients with hyperlysinemia. Pediatrics (1967) 1.18
Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis. N Engl J Med (1972) 1.17
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. Pediatr Res (1985) 1.16
3-Methylindole (skatole) and indole production by mixed populations of pig fecal bacteria. Appl Environ Microbiol (1995) 1.14
Absence of acid maltase in glycogenesis type 2(Pompe's disease) in tissue culture. Am J Dis Child (1969) 1.12
Familial dysautonomia. N Engl J Med (1966) 1.12
Hormonal induction of alkaline phosphatase activity by an increase in catalytic efficiency of the enzyme. J Mol Biol (1971) 1.11
Inhibition of alkaline phosphatase by cysteine and its analogues. Biochim Biophys Acta (1966) 1.11
Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease. N Engl J Med (1967) 1.11
Multiple enzyme defects in familial hyperlysinemia. Pediatr Res (1976) 1.09
Enzyme activity in classical and variant forms of maple syrup urine disease. J Pediatr (1972) 1.08
Patient care, resident stress, and government regulation. Am J Dis Child (1989) 1.06
The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol (1975) 1.06
Metabolic cooperation in cell culture: studies of the mechanisms of cell interaction. J Cell Physiol (1974) 1.06
The effects on cytochrome b-559HP and P546 of treatments that inhibit oxygen evolution by chloroplasts. Biochim Biophys Acta (1972) 1.04
The prognosis of hyperlysinemia: an interim report. Am J Hum Genet (1983) 1.03
Transfer of amino acids across the in vitro perfused human placenta. Pediatr Res (1979) 1.02
Cell cycle analysis of sodium butyrate and hydroxyurea, inducers of ectopic hormone production in HeLa cells. J Cell Physiol (1979) 1.02
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. J Clin Invest (1991) 1.02
The reduction by dithionite of Fe(III) myoglobin derivatives with different ligands attached to the iron atom. A study by rapid-wavelength-scanning stopped-flow spectrophotometry. Eur J Biochem (1977) 1.01
Histidinemia. Am J Dis Child (1965) 1.01
Increased nerve-growth-stimulating activity in disseminated neurofibromatosis. N Engl J Med (1974) 1.01
The functions of plastoquinone and beta-carotene in photo system II of chloroplasts. Biochim Biophys Acta (1974) 0.99
Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. J Clin Invest (1973) 0.99
Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects. Biochem J (1981) 0.98
Changes in human serum dopamine- -hydroxylase activity with age. Nature (1972) 0.98
Urinary metabolites in congenital hyperuricosuria. Science (1967) 0.98
Enzyme assays with mutant cell lines of maple syrup urine disease. Methods Enzymol (1988) 0.97
Studies on the mechanism of hormonal induction of alkaline phosphatase in human cell cultures. I. Effects of puromycin and actinomycin D. J Cell Biol (1966) 0.97
Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann Intern Med (1972) 0.97
Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2. J Biol Chem (1992) 0.97
Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. Am J Hum Genet (1982) 0.96
Variant maple syrup urine disease in mother and daughter. Can Med Assoc J (1973) 0.96
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Genomics (1991) 0.96
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet (2000) 0.96
Production of fetal-like alkaline phosphatase by HeLa cells. Biochem Genet (1969) 0.95
Transfer of lipids across the guinea pig placenta. Am J Obstet Gynecol (1969) 0.95
Fate of intra-amniotically administered oestriol-15-3H-3-sulphate and oestriol-16-14C-16-glucosiduronate in pregnant women at midterm. Acta Endocrinol (Copenh) (1966) 0.94
Studies on hormonal induction of alkaline phosphatase in HeLa cell cultures. Kinetic, thermodynamic and electrophoretic properties of induced and base-level enzymes. Biochim Biophys Acta (1972) 0.94
Excretion of pipecolic acid by infants and by patients with hyperlysinemia. Pediatr Res (1970) 0.94
Cyclic AMP regulates transcription of the genes encoding human chorionic gonadotropin with different kinetics. DNA (1987) 0.93
The effect of hypoxia on human trophoblast in culture: morphology, glucose transport and metabolism. Placenta (1997) 0.93
Chaperonins groEL and groES promote assembly of heterotetramers (alpha 2 beta 2) of mammalian mitochondrial branched-chain alpha-keto acid decarboxylase in Escherichia coli. J Biol Chem (1992) 0.93
Lysine-ketoglutarate reductase in human tissues. Biochim Biophys Acta (1975) 0.92
Hypervalinemia. A defect in valine transamination. Pediatrics (1967) 0.92
Alkaline inorganic pyrophosphatase activity of mammalian-cell alkaline phosphatase. Biochem J (1967) 0.91
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Am J Hum Genet (1991) 0.91