Leon E. Rosenberg

Leon E. Rosenberg's AcademicInfluence.com Rankings

Leon E. Rosenberg

Biology

#4063

World Rank

#6115

Historical Rank

#1583

USA Rank

Molecular Biology

#438

World Rank

#447

Historical Rank

#145

USA Rank

Genetics

#414

World Rank

#480

Historical Rank

#179

USA Rank

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Biology

Why Is Leon E. Rosenberg Influential?

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According to Wikipedia, Leon Emanuel Rosenberg was an American physician-scientist, geneticist, and educator. He served as chair of the department of human genetics and also as dean of the medical school of Yale University. He then worked as the chief scientific officer of the Bristol-Myers Squibb Pharmaceutical company. He wrote more than 300 research articles, chapters, and books on his scientific research and public policy views across his career.

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Leon E. Rosenberg's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The natural history of the inherited methylmalonic acidemias. (1983) (278)
The physician-scientist career pipeline in 2005: build it, and they will come. (2005) (274)
Survey of amino-terminal proteolytic cleavage sites in mitochondrial precursor proteins: leader peptides cleaved by two matrix proteases share a three-amino acid motif. (1989) (264)
Cystinuria: biochemical evidence for three genetically distinct diseases. (1966) (258)
Physician-Scientists--Endangered and Essential (1999) (255)
Amino acid metabolism and its disorders. (1973) (253)
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. (1984) (196)
Transport of amino acids by slices of rat-kidney cortex. (1961) (194)
A leader peptide is sufficient to direct mitochondrial import of a chimeric protein. (1985) (179)
Metabolic control and disease (1980) (177)
Multicompartmental analysis of calcium kinetics in normal adult males. (1967) (153)
HUMORAL SYNDROMES ASSOCIATED WITH NONENDOCRINE TUMORS. (1964) (147)
The physician-scientist: an essential--and fragile--link in the medical research chain. (1999) (144)
Rat cystathionine beta-synthase. Gene organization and alternative splicing. (1992) (142)
Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. (1973) (141)
Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes (1972) (137)
Competitive inhibition of dibasic amino acid transport in rat kidney. (1962) (135)
Binding and uptake of transcobalamin II by human fibroblasts. (1978) (134)
Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B12 Dependency (1968) (130)
Targeting of pre-ornithine transcarbamylase to mitochondria: Definition of critical regions and residues in the leader peptide (1986) (129)
IONIC REQUIREMENTS FOR AMINO ACID TRANSPORT IN THE RAT KIDNEY CORTEX SLICE. I. INFLUENCE OF EXTRACELLULAR IONS. (1964) (126)
CYSTINURIA: DEFECTIVE INTESTINAL TRANSPORT OF DIBASIC AMINO ACIDS AND CYSTINE. (1965) (123)
Cleavage of precursors by the mitochondrial processing peptidase requires a compatible mature protein or an intermediate octapeptide (1991) (122)
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. (1984) (121)
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus (1985) (121)
Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. (1968) (120)
Extracellular space estimation in rat kidney slices using C saccharides and phlorizin. (1962) (118)
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. (1991) (113)
EVIDENCE AGAINST A SINGLE RENAL TRANSPORT DEFECT IN CYSTINURIA. (1964) (111)
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. (1993) (110)
Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. (1978) (109)
Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. (1989) (109)
Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. (1978) (109)
Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency. (1973) (107)
Removing career obstacles for young physician-scientists -- loan-repayment programs. (2002) (106)
Defective propionate carboxylation in ketotic hyperglycinaemia. (1969) (104)
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. (1976) (99)
The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. (1989) (99)
Rat liver mitochondrial intermediate peptidase (MIP): purification and initial characterization. (1992) (98)
Anticystinuric effects of glutamine and of dietary sodium restriction. (1986) (96)
Studies of the kinetics of amino acid transport, incorporation into portein and oxidation in kidney-cortex slices. (1963) (92)
Two mitochondrial matrix proteases act sequentially in the processing of mammalian matrix enzymes. (1988) (91)
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. (1969) (89)
The role of sodium ion in the transport of amino acids by the intestine. (1965) (89)
Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. (1965) (88)
Cystinuria: In vitro Demonstration of an Intestinal Transport Defect (1964) (87)
Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa (1973) (86)
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. (1975) (86)
Processing of pre-ornithine transcarbamylase requires a zinc-dependent protease localized to the mitochondrial matrix. (1982) (85)
A Gender Gap in the Next Generation of Physician-Scientists: Medical Student Interest and Participation in Research (2002) (84)
Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits. (1980) (81)
Duncan's Diseases of Metabolism (1970) (80)
Maleic acid-induced inhibition of amino acid transport in rat kidney. (1964) (77)
Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. (1978) (75)
Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia” (1971) (74)
Isolation and characterization of ornithine transcarbamylase from normal human liver. (1978) (73)
Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver. (1977) (72)
Emerging opportunities and career paths for the young physician-scientist (2002) (72)
Protein mediated vitamin uptake. Adsorptive endocytosis of the transcobalamin II-cobalamin complex by cultured human fibroblasts. (1979) (71)
Renal and intestinal hexose transport in familial glucose-galactose malabsorption. (1970) (70)
Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. (1982) (69)
Dietary perturbation of calcium metabolism in normal man: compartmental analysis. (1969) (68)
Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts. (1969) (67)
Amino-terminal octapeptides function as recognition signals for the mitochondrial intermediate peptidase. (1992) (67)
Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells. (1979) (66)
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis. (1975) (65)
Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression. (1980) (64)
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. (1986) (64)
Purification and properties of methylmalonyl coenzyme A mutase from human liver. (1982) (64)
The general mitochondrial matrix processing protease from rat liver: structural characterization of the catalytic subunit. (1990) (63)
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. (1986) (62)
Rat liver mitochondrial processing peptidase. Both alpha- and beta-subunits are required for activity. (1994) (62)
Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase. (1987) (61)
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells (1976) (61)
Biosynthesis and proteolytic activation of cystathionine beta-synthase in rat liver. (1984) (61)
Lysine Transport in Human Kidney: Evidence for Two Systems (1967) (61)
Insulin stimulation of amino acid uptake in rat diaphragm. Relationship to protein sythesis. (1968) (60)
GroEL, GroES, and ATP-dependent folding and spontaneous assembly of ornithine transcarbamylase. (1993) (59)
Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor. (1985) (58)
A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites. (1985) (58)
Amino acid transport in bone. II. Regulation of collagen synthesis by perturbation of proline transport. (1967) (58)
Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin. (1977) (58)
Cystinuria: Genetic Heterogeneity and Allelism (1966) (57)
IMPAIRED RENAL TUBULAR FUNCTION INDUCED BY SUGAR INFUSION IN MAN. (1964) (57)
The use of D-penicillamine in cystinuria: efficacy and untoward reactions. (1981) (57)
TRANSPORT OF NEUTRAL AND DIBASIC AMINO ACIDS BY HUMAN LEUKOCYTES: ABSENCE OF DEFECT IN CYSTINURIA. (1965) (56)
In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamoylase. (1979) (56)
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. (1972) (55)
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. (1971) (55)
Genetic and biochemical analysis of human cobalamin mutants in cell culture. (1978) (55)
Sequence analysis, biogenesis, and mitochondrial import of the alpha-subunit of rat liver propionyl-CoA carboxylase. (1989) (55)
Import of rat ornithine transcarbamylase precursor into mitochondria: two-step processing of the leader peptide (1987) (53)
Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia. (1976) (53)
Amino acid transport in bone. Evidence for separate transport systems for neutral amino and imino acids. (1966) (52)
Energy-dependent translocation of the precursor of ornithine transcarbamylase by isolated rat liver mitochondria. (1982) (51)
Identification and analysis of multiple glycine transport systems in isolated mammalian renal tubules. (1968) (50)
Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts. (1978) (49)
Transmembrane transport of cobalamin in prokaryotic and eukaryotic cells. (1981) (49)
HLA and disease susceptibility: a primer. (1977) (47)
Intestinal transport of cystine and cysteine in man: evidence for separate mechanisms. (1967) (46)
Sequence analysis of rat mitochondrial intermediate peptidase: similarity to zinc metallopeptidases and to a putative yeast homologue. (1992) (46)
Wilson's disease with reversible renal tubular dysfunction. Correlation with proximal tubular ultrastructure. (1971) (46)
Amino acid transport by isolated mammalian renal tubules. II. Transport systems for L-proline. (1969) (45)
Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. (1980) (44)
Electron microscopy of human skin fibroblasts in situ during growth in culture. (1975) (43)
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. (1990) (43)
Inherited Propionyl-CoA Carboxylase Deficiency in ‘Ketotic Hyperglycinemia’ (1970) (42)
Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups. (1978) (42)
[13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate. (1975) (41)
Familial iminoglycinuria. An inborn error of renal tubular transport. (1968) (40)
Correlation between serum propionate and blood ammonia concentrations in propionic acidemia. (1978) (40)
MECHANISM OF ADRENAL-STEROID REVERSAL OF HYPERCALCEMIA IN MULTIPLE MYELOMA. (1964) (40)
Posttranslational uptake and processing of in vitro synthesized ornithine transcarbamoylase precursor by isolated rat liver mitochondria. (1981) (40)
The beta subunit of the mitochondrial processing peptidase from rat liver: cloning and sequencing of a cDNA and comparison with a proposed family of metallopeptidases. (1993) (40)
Synthesis of cobalamin coenzymes by human cells in tissue culture. (1971) (39)
Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase. (1986) (38)
Improved techniques for the extraction and chromatography of cobalamins. (1978) (37)
Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups. (1978) (37)
Uptake of D-glucose by renal tubule membranes. I. Evidence for two transport systems. (1972) (37)
Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme. (1983) (37)
Human Genetic Variation. (Book Reviews: The Biochemical Genetics of Man) (1973) (36)
Cystathionine beta-synthase from human liver: improved purification scheme and additional characterization of the enzyme in crude and pure form. (1983) (36)
Inherited aminoacidopathies demonstrating vitamin dependency. (1969) (36)
MD/PhD programs--a call for an accounting. (2008) (36)
CYSTINURIA: COMBINED CLINICAL STAFF CONFERENCE AT THE NATIONAL INSTITUTES OF HEALTH. (1965) (35)
Studies of the Mechanism of Pyridoxine-Responsive Homocystinuria (1972) (35)
Uptake and metabolism of free cyanocobalamin by cultured human fibroblasts from controls and a patient with transcobalamin II deficiency. (1981) (35)
Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells. (1984) (35)
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. (1990) (34)
Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids. (1978) (34)
Inhibition of amino Acid transport in rat kidney cortex by puromycin. (1967) (34)
THE EFFECT OF PREDNISONE ON CALCIUM METABOLISM AND CA47 KINETICS IN PATIENTS WITH MULTIPLE MYELOMA AND HYPERCALCEMIA. (1964) (34)
The effect of high galactose diets on urinary excretion of amino acids in the rat. (1961) (34)
Inherited defects of B12 metabolism. (1970) (34)
The ornithine transcarbamylase leader peptide directs mitochondrial import through both its midportion structure and net positive charge (1987) (34)
Amino acid transport by isolated mammalian renal tubules: III. Binding of l-proline by proximal tubule membranes (1970) (33)
Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. (1986) (33)
Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12. (1970) (33)
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts. (1974) (33)
Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase. (1983) (32)
Nephrotoxic effects of penicillamine in cystinuria. (1967) (32)
Vitamin-Dependent Genetic Disease (1970) (32)
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts. (1981) (32)
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. (1989) (32)
HEXOSE INHIBITION OF AMINO ACID UPTAKE IN THE RAT-KIDNEY-CORTEX SLICE. (1964) (32)
Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. (1987) (31)
Genetic heterogeneity in cystinuria: evidence for allelism. (1966) (31)
Young Physician-Scientists: Internal Medicine's Challenge (2000) (31)
Mitochondrial metabolism of hydroxocobalamin: synthesis of adenosylcobalamin by intact rat liver mitochondria. (1978) (31)
Compartmental analysis of collagen synthesis in fetal rat calvaria. I. Perturbations of proline transport. (1971) (30)
Uptake of hydroxocobalamin by rat liver mitochondria. Binding to a mitochondrial protein. (1976) (30)
Expression of amplified DNA sequences for ornithine transcarbamylase in HeLa cells: arginine residues may be required for mitochondrial import of enzyme precursor (1985) (29)
Pre-ornithine transcarbamylase. Properties of the cytoplasmic precursor of a mitochondrial matrix enzyme. (1981) (29)
Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin. (1975) (29)
Vitamin-responsive inherited metabolic disorders. (1976) (29)
A MODIFIED NINHYDRIN COLORIMETRIC METHOD FOR THE DETERMINATION OF PLASMA ALPHA-AMINO NITROGEN. (1963) (29)
The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein. (1991) (28)
Newly processed ornithine transcarbamylase subunits are assembled to trimers in rat liver mitochondria. (1984) (28)
RNA required for import of precursor proteins into mitochondria. (1984) (27)
Mitochondrial import and processing of mutant human ornithine transcarbamylase precursors in cultured cells (1988) (27)
Influence of age on insulin stimulation of amino acid uptake in rat diaphragm. (1971) (27)
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. (1973) (27)
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. (1981) (26)
Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. (1986) (25)
The implications of genetic diversity for nutrient requirements: the case of folate. (2009) (25)
Human Propionyl CoA Carboxylase: Some Properties of the Partially Purified Enzyme in Fibroblasts from Controls and Patients with Propionic Acidemia (1979) (24)
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. (1984) (24)
Import of the malate dehydrogenase precursor by mitochondria. Cleavage within leader peptide by matrix protease leads to formation of intermediate-sized form. (1988) (23)
Autosomal recessive inheritance of renal glycosuria. (1971) (23)
Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts. (1980) (22)
Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency. (1971) (22)
Biosynthesis of human cystathionine beta-synthase in cultured fibroblasts. (1984) (22)
PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA (1975) (21)
Different structures in the amino-terminal domain of the ornithine transcarbamylase leader peptide are involved in mitochondrial import and carboxyl-terminal cleavage. (1988) (20)
The effect of phlorizin on amino acid transport in rat-kidney-cortex slices (1963) (20)
Familial growth retardation, renal aminoaciduria and cor pulmonale. I. Description of a new syndrome, with case reports. (1961) (19)
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. (1982) (19)
Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver. (1983) (19)
Stimulation of Propionyl CoA and β-Methylcrotonyl CoA Carboxylase Activities in Human Leukocytes and Cultured Fibroblasts by Biotin (1979) (18)
Targeting of Nuclear‐Encoded Proteins to the Mitochondrial Matrix: Implications for Human Genetic Defects (1986) (18)
Three independent mutations in the same exon of thePCCB gene: Differences between Caucasian and Japanese propionic acidaemia (1993) (17)
Inhibitory effect of sugars on amino acid accumulation by slices of rat kidney cortex. (1962) (16)
Interactions of methylmalonyl CoA mutase from normal human fibroblasts with adenosylcobalamin and methylmalonyl CoA: evidence for non-equivalent active sites. (1980) (16)
Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method. (1990) (16)
Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1. (1979) (16)
Effect of Puromycin on Insulin-stimulated Amino-acid Transport in Muscle (1967) (16)
Transport of amino acids by isolated rabbit renal tubules. (1968) (16)
STUDIES OF CALCIUM METABOLISM IN MULTIPLE MYELOMA WITH CALCIUM AND METABOLIC-BALANCE TECHNIQUES. (1963) (16)
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia. (1981) (16)
Effect of parathyroid hormone on renal tubular reabsorption of amino acids. (1974) (14)
A new syndrome: familial growth retardation, renal aminoaciduria and cor pulmonale. II. Investigation of renal function, amine acid metabolism and genetic transmission. (1961) (14)
Propionyl-CoA carboxylase deficiency (propionicacidemia): A cause of non-ketotic hyperglycinemia (1971) (13)
Metabolism of Amino Acids and Organic Acids (1976) (13)
No effect of L-glutamine on cystinuria. (1980) (13)
Localization and characterization of adenosine triphosphatase in guinea pig intestinal epithelium. (1968) (12)
Effect of sodium fluoride therapy on calcium metabolism in multiple myeloma. (1966) (12)
Depletion of cultured human fibroblasts of pyridoxal 5'-phosphate: effect on activities of aspartate aminotransferase, alanine aminotransferase, and cystathionine beta-synthase. (1980) (12)
Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine. (1975) (11)
Inborn errors of cobalamin metabolism: Effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts (1979) (10)
Uptake of α-aminoisobutyric acid by cultured human fibroblasts (1970) (10)
Genetic counseling for congenital heart disease. (1976) (10)
Meiotic expression of human ornithine transcarbamylase in the testes of transgenic mice (1988) (10)
Human Genes and Genomes: Science, Health, Society (2012) (9)
Population and Evolutionary Genetics (2012) (8)
EVIDENCE FOR THREE DISTINCT CLASSES OF CYSTATHIONINE ,8-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS (1978) (8)
The inherited methylmalonic acidaemias: a model system for the study of vitamin metabolism and apoenzyme-coenzyme interactions (1981) (7)
Treating Genetic Diseases: Lessons from Three Children (1990) (7)
Translocation of precursor proteins into the mitochondrial matrix occurs through an environment accessible to aqueous perturbants. (1989) (7)
Observations on the effect of bovine growth hormone on amino acid accumulation by rat kidney-cortex slices and intestinal segments. (1962) (6)
Paradoxical Effect of Phlorizin on Glucose Uptake and Intracellular Accumulation of Amino-Acids in Rat Kidney Slices in vitro (1961) (6)
DNA analysis for ornithine transcarbamylase deficiency (1986) (6)
Diagnosis and mangement of inherited aminoacidopathies in the newborn and the unborn. (1974) (6)
538 ETHYLMALONIC-ADIPIC ACIDURIA: A NEW DEFECT OF BUTYRATE OXIDATION ASSOCIATED WITH HYPOGLYCEMIA (1978) (6)
DEFECT IN 5′-DEOXYADENOSYLCOBALAMIN SYNTHESIZING ENZYME IN METHYLMALONICACIDEMIA (1974) (5)
Essential arginine residues in the active sites of propionyl CoA carboxylase and beta-methylcrotonyl CoA carboxylase. (1979) (5)
EARLY TREATMENT OF COMPLETE ORNITHINE TRANSCARBAMYLASE DEFICIENCY WITH KETO ANALOGUES OF ESSENTIAL AMINO ACIDS (1977) (5)
Public policy symposium: the legal, ethical, and economic impact of patient material used for product development in the biomedical industry. (1985) (4)
536 EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE OF MITOCHONDRIAL CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY (1978) (4)
Duncan's Diseases of metabolism : genetics and metabolism, endocrinology and nutrition (1969) (4)
Single-Gene Defects (2013) (4)
ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN REYE'S SYNDROME (1975) (4)
Vitamin B6 Responsive Homocystinuria (1970) (4)
UNEXPLAINED DEATH IN A PATIENT WITH LEUKEMIA: CLINICAL PATHOLOGICAL CONFERENCE AT THE NATIONAL INSTITUTES OF HEALTH (1960) (3)
573 HETEROZYGOTE EXPRESSION IN PROPIONYL CoA CARBOXYLASE (PCC) DEFICIENCY: DIFFERENCES BETWEEN THE MAJOR COMPLEMENTATION GROUPS (1978) (3)
Complete ornithine transcarbamylase deficiency: A cause of lethal neonatal hyperammonemia (1971) (3)
Presidential address. On the state of our Society. (1981) (3)
Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia (1982) (3)
Pathologic Aminoaciduria in Experimental Ascorbic Acid Deficiency (1965) (2)
Duncan's Diseases of metabolism : genetics metabolism and endocrinology (1974) (2)
Heterozygote Expression in Propionyl (1978) (2)
Contrast between Vitamin-Responsive Inherited Metabolic Diseases and Vitamin Use in Schizophrenia (1975) (2)
STRATEGIES FOR THE MOLECULAR CLONING OF LOW ABUNDANCE MESSENGER RNAs (1984) (2)
GENE DELETION AND RESTRICTION FRAGMENT LENGTH POLYMORPHISM (RFLP) AT THE HUMAN ORNITHINE TRANSCARBAMYLASE (OTC) LOCUS (1984) (2)
THE SPRING MEETINGS : BACK TO THE FUTURE (1994) (2)
INBORN ERRORS OF NUTRIENT METABOLISM: GARROD'S LESSONS AND LEGACIES (1984) (2)
DNA and other strands: the making of a human geneticist. (2014) (2)
Acceptance of the Kober Medal. (2003) (2)
Duncan's Diseases of metabolism : endocrinology and nutrition (1969) (2)
Transmission of Genes (2013) (2)
Building bridges between academia and industry: forms; foundations; functions. (1997) (1)
Detection and Treatment of Genetic Disorders (2013) (1)
Uptake of alpha-aminoisobutyric acid by cultured human fibroblasts. (1970) (1)
Vitamin-responsive inherited diseases affecting the nervous system. (1974) (1)
Chapter 8 – Mutation (2012) (1)
AMINO ACID ACCUMULATION BY KIDNEY CORTEX SLICES AND INTESTINAL SEGMENTS OF RATS BEARING A TRANSPLANTABLE PITUITARY TUMOR. (1965) (1)
Growth, Development, and Reproduction (2013) (1)
Interaction of environmental and genetic factors in Klinefelter's syndrome. (1973) (1)
Fairy Shrimps in California Rice Fields. (1946) (1)
THE MEASUREMENT OF 5′ ADENOSYICOBALAMIN IN SERUM MAY PROVIDE A RAPID METHOD OF DETERMINING THE CAUSE OF METHYLMALONIC ACIDEMIA (1987) (1)
Anticystinuric Effects of Glutamine and of Dietary Sodium Restriction (1987) (1)
Coding sequence of the precursor of the 1 p subunit of rat propionyl-CoA carboxylase ( mitochondrial enzyme / leader peptide structure / propionic acidemia ) (1999) (1)
Chapter 3 – Genetics (2012) (1)
Papers on Regulation of Gene Activity During Development (1971) (1)
Defective propionate oxidation in leukocytes of vitamin B12-deficient pigs: in vitro correction. (1973) (1)
Analysis ofCalcium Kinetics inNormal Adult Males (1967) (1)
Chapter 11 – Chromosome Abnormalities (2012) (1)
Can We Cure Genetic Disorders (1985) (1)
Genetics and Metabolism (1974) (1)
Defective Coenzyme Biosynthesis in B12-dependent Methylmalonicaciduria (1970) (1)
cDNA cloning of rat and human medium chain acyl-CoA dehydrogenase (MCAD) (1986) (0)
Chapter 13 – Multifactorial Traits (2012) (0)
Clinical implications. (2021) (0)
Using patient materials for product development: a dean's perspective. (1985) (0)
Human Genetic Variation: The Biochemical Genetics of Man . D. J. H. Brock and Oliver Mayo, Eds. Academic Press, New York, 1972. xii, 726 pp., illus. $29.50. (1973) (0)
Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance : Propionate as an obligate intermediate ( specific isotope enrichment / metabolic pathway ) (0)
OntheMechanism ofPyridoxine Responsive Homocystinuria. II.Properties ofNormalandMutantCystathionine O-Synthase fromCultured Fibroblasts* (1974) (0)
Physician-scientist training. Authors' reply (2006) (0)
Kinetic response to dietary calcium changes. (1967) (0)
Genetic diseases of the kidney. (1970) (0)
Intestinal hexose transport in familial glucose galactose mal absorption (1976) (0)
CONTINUING LIBERAL EDUCATION FOR THE PHYSICIAN. (1964) (0)
Use of cofactors in inborn errors of amino acid metabolism. (1979) (0)
Detection of propionyl-CoA carboxylase activity after electrophoresis. (1978) (0)
Structure of Genes, Chromosomes, and Genomes (2013) (0)
Editorial help (2004) (0)
Disorders of Variable Genomic Architecture (2013) (0)
APPLICATION OF ULTRASOUND AND FETOSCOPY TO PRENATAL DIAGNOSIS (1977) (0)
IMMUNOCHEMICAL ANALYSES IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY (1977) (0)
Introducing the CORE CONCEPTS (2013) (0)
New genetics and old values. (1983) (0)
The principles of human biochemical genetics. (1971) (0)
The New Genetics and the Future Practice of Medicine (2019) (0)
Wilson's Disease with Reversible Renal Tubular Dysfunction (2020) (0)
Career Intentions of MD/PhD Program Graduates. Authors' reply (2009) (0)
America's medical research enterprise: a time for rededication. (1995) (0)
2004 Curt Stern Award Address. Introductory speech for Neil Risch. (2005) (0)
Nucleic Acids Research A cDNA clone for the precursor of rat mitochondrial omithine transcarbamylase : comparison of rat and human leader sequences and conservation of catalytic sites (2004) (0)
Methylmalonicacidemia: Biochemi 5'-deoxyadenosylcobalamin synthei (2016) (0)
Table of Contents (1992) (0)
Personalized Genetics and Genomics (2012) (0)
Reconstitution of an unfolded homotrimeric enzyme in vitro by the chaperonins groel and groes and atp (1992) (0)
An unusual insertion/deletion in the gene encoding the 8-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia (polymerase chain reaction/allele-specific oligonucleotide hybridization/genetic heterogeneity/interallelic complementation/PCCB gene) (2016) (0)
Framing the Field (2013) (0)
Introductory Speech for Neil Risch (2005) (0)
Chapter 15 – Birth Defects (2012) (0)
Honoring Aaron Lerner (1985) (0)
Expression of Genes and Genomes (2012) (0)
Chapter 9 – Biological Evolution (2012) (0)
Chapter 10 – Human Individuality (2012) (0)
Some Recent Advances in Inborn Errors of Metabolism, edited by K. S. Holt, M.D., M.R.C.P., D.C.H., and V. P. Coffey, L.R.C.P. and S.I., Ph.D., D.C.H. Edinburgh: E. and S. Livingstone Ltd., 1968, 167 pp., $6.50 (1969) (0)
Physician-Scientist Training--Reply (2006) (0)
Clinical implications (2019) (0)
The Genetics of Cancer (2012) (0)
The human genome project. (1992) (0)
[Molecular basis of organic acidemia--propionic acidemia]. (1990) (0)
Meiotic Expression ofHumanOrnithine Transcarbamylase intheTestes ofTransgenic Mice (1988) (0)
Genetic and cellular bases of congenital renal dysfunction. Introductory remarks on Session 2. Normal membrane structure and transport. (1970) (0)
MOLECULAR CLONING AND NUCLEOTIDE SEQUENCE OF cDNA ENCODING RAT MEDIUM CHAIN ACYL-CoA DEHYDROGENASE (MCAD) (1987) (0)
2005 William Allan Award address. Introductory speech for Francis S. Collins. (2006) (0)
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine ,f-synthase and the fB subunit of propionyl-CoA carboxylase (mitochondrial precursor/proplonlc acidemia/homocystinuria/chromosome 3/chromosome 21) (2016) (0)
Common mutation in the beta subunit deficient propionic acidemia (1989) (0)
Medical Genetics: Progress and Problems (1974) (0)
MOLECULAR CLONING OF cDNA ENCODING RAT ISOVALERYL-CoA DEHYDROGENASE (IVD) (1987) (0)
Table of Contents (1985) (0)
Four Children and Yale: The Making of a Human Geneticist (2014) (0)
Career Intentions of MD/PhD Program Graduates—Reply (2009) (0)
of Penicillamine in Cystinuria (2016) (0)
Introductory Speech for Francis S. Collins (2006) (0)

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