David Valle

Professor

1971 …2019
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Research Output 1971 2019

1992

Ornithine δ-aminotransferase mutations in gyrate atrophy: Allelic heterogeneity and functional consequences

Brody, L. C., Mitchell, G. A., Obie, C., Michaud, J., Steel, G., Fontaine, G., Robert, M. F., Sipila, I., Kaiser-Kupfer, M. & Valle, D., Feb 15 1992, In : Journal of Biological Chemistry. 267, 5, p. 3302-3307 6 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Mutation
Ornithine
Glutamic Acid

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

Crane, A. M., Martin, L. S., Valle, D. & Ledley, F. D., May 1992, In : Human Genetics. 89, 3, p. 259-264 6 p.

Research output: Contribution to journalArticle

Methylmalonyl-CoA Mutase
Phenotype
Mutation
Apoenzymes
Hyperammonemia

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

Michaud, J., Brody, L. C., Steel, G., Fontaine, G., Martin, L. S., Valle, D. & Mitchell, G., 1992, In : Genomics. 13, 2, p. 389-394 6 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Point Mutation
Mutation
Genes
Prospective Studies
1991

A polymorphic synonymous mutation in human ornithine-δ-aminotransferase (N378N)

Martin, L. S., Mitchell, G. A., Michaud, J., Brody, L. C. & Valle, D., Apr 25 1991, In : Nucleic Acids Research. 19, 8, p. 1962 1 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Chromosomes, Human, Pair 10
Polymerase Chain Reaction
Mutation
Silent Mutation

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Stanley, C. A., DeLeeuw, S., Coates, P. M., Vianey-Liaud, C., Divry, P., Bonnefont, J. P., Saudubray, J. M., Haymond, M., Trefz, F. K., Breningstall, G. N., Wappner, R. S., Byrd, D. J., Sansaricq, C., Tein, I., Grover, W., Valle, D., Rutledge, S. L. & Treem, W. R., Nov 1991, In : Annals of Neurology. 30, 5, p. 709-716 8 p.

Research output: Contribution to journalArticle

Carnitine
Coma
Cardiomyopathies
Muscle Weakness
Age of Onset
Ornithine-Oxo-Acid Transaminase
Glutamate-Ammonia Ligase
Hepatocytes
Messenger RNA
Liver

Gyrate Atrophy of the Choroid and Retina: Long-term Reduction of Ornithine Slows Retinal Degeneration

Kaiser Kupfer, M. I., Caruso, R. C. & Valle, D., 1991, In : Archives of Ophthalmology. 109, 11, p. 1539-1548 10 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Retinal Degeneration
Ornithine
Siblings
Diet

Intellectual Development in 12-Year-Old Children Treated for Phenylketonuria

Azen, C. G., Koch, R., Friedman, E. G., Berlow, S., Coldwell, J., Krause, W., Matalon, R., McCabe, E., O'Flynn, M., Peterson, R., Rouse, B., Scott, C. R., Sigman, B., Valle, D. & Warner, R., 1991, In : American Journal of Diseases of Children. 145, 1, p. 35-39 5 p.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Intelligence Tests
Diet

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm

Lafreniere, R. G., Geraghty, M. T., Valle, D., Shows, T. B. & Willard, H. F., 1991, In : Genomics. 10, 1, p. 276-279 4 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Chromosomes, Human, X
Chromosomes, Human, Pair 10
Genetic Linkage
Hybrid Cells

Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene

Hofman, K. J., Steel, G., Kazazian, H. & Valle, D., Apr 1991, In : American Journal of Human Genetics. 48, 4, p. 791-798 8 p.

Research output: Contribution to journalArticle

Phenylalanine Hydroxylase
Phenylketonurias
Haplotypes
Genes
Alleles

Splice-mediated insertion of an Alu sequence inactivates ornithine aminotransferase: A role for Alu elements in human mutation

Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, E. P., Lyonne, S., Brody, L. C., Steel, G., Obie, C. & Valle, D., 1991, In : Proceedings of the National Academy of Sciences of the United States of America. 88, 3, p. 815-819 5 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Alu Elements
Insertional Mutagenesis
RNA Splice Sites
Mutation

Transcriptional analysis of the human ornithine aminotransferase promoter

Engelhardt, J. F., Steel, G. & Valle, D., Jan 15 1991, In : Journal of Biological Chemistry. 266, 2, p. 752-758 7 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Urea
Rats
Base Pairing
Hep G2 Cells

Treatment of genetic disease: Current status and prospects for the future

Valle, D., 1991, In : Seminars in Perinatology. 15, 1 SUPPL. 1, p. 52-56 5 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Organ Transplantation
Genetic Therapy
1990

Allopurinol-induced orotidinuria: A test for mutations at the ornithine carbamoyltransferase locus in women

Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., Jun 7 1990, In : New England Journal of Medicine. 322, 23, p. 1641-1645 5 p.

Research output: Contribution to journalArticle

Ornithine Carbamoyltransferase
Allopurinol
Ornithine Carbamoyltransferase Deficiency Disease
Mutation
Heterozygote

Allopurinol-Induced Orotidinuria

Tuchman, M., Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., Nov 8 1990, In : New England Journal of Medicine. 323, 19, p. 1352-1353 2 p.

Research output: Contribution to journalLetter

Ornithine Carbamoyltransferase Deficiency Disease
Allopurinol

Allopurinol-induced orotidinuria (Reply)

Hauser, E. R., Finkelstein, J. E., Valle, D. & Brusilow, S. W., 1990, In : New England Journal of Medicine. 323, 19, p. 1353 1 p.

Research output: Contribution to journalArticle

Allopurinol

Molecular analysis of the gene encoding the alpha subunit of G(s) in Albright's hereditary osteodystrophy

Patten, J. L., Johns, D. R., Valle, D., Eil, C. & Levine, M. A., 1990, Calcium regulation and bone metabolism. Basic and clinical aspects: proceedings of the 10th International Conference on calcium regulating hormones and bone metabolism. ICS886. Cohn, D. V., Glorieux, F. H., Martin, T. J., Cohn, D. V., Glorieux, F. H. & Martin, T. J. (eds.). Elsevier Science Publishers B.V., p. 45-50 6 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Gs GTP-Binding Protein alpha Subunits
Genes
Albright's hereditary osteodystrophy

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

Patten, J. L., Johns, D. R., Valle, D., Eil, C., Gruppuso, P. A., Steele, G., Smallwood, P. M. & Levine, M. A., May 17 1990, In : New England Journal of Medicine. 322, 20, p. 1412-1419 8 p.

Research output: Contribution to journalArticle

GTP-Binding Proteins
Adenylyl Cyclases
Mutation
Genes
Immune Sera
1989

A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome

Glaser, T., Driscoll, D. J., Antonarakis, S., Valle, D. & Housman, D., 1989, In : Genomics. 5, 4, p. 880-893 14 p.

Research output: Contribution to journalArticle

WAGR Syndrome
Chromosome Deletion
Chromosomes, Human, Pair 11
DNA
Catalase

At least two mutant alleles of ornithine δ-aminotransferase cause gyrate atrophy of the choroid and retina in Finns

Mitchell, G. A., Brody, L. C., Sipila, I., Looney, J. E., Wong, C., Engelhardt, J. F., Patel, A. S., Steel, G., Obie, C., Kaiser-Kupfer, M. & Valle, D., 1989, In : Proceedings of the National Academy of Sciences of the United States of America. 86, 1, p. 197-201 5 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Alleles
Pedigree
Complementary DNA

Nonketotic hyperglycinemia: Studies in an atypical variant

Singer, H., Valle, D., Hayasaka, K. & Tada, K., 1989, In : Neurology. 39, 2, p. 286-288 3 p.

Research output: Contribution to journalArticle

Nonketotic Hyperglycinemia
Glycine
Seizures
Phenotype
Liver

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

Hofman, K. J., Antonarakis, S. E., Missiou-Tsangaraki, S., Boehm, C. D. & Valle, D., 1989, In : Molecular Biology and Medicine. 6, 3, p. 245-250 6 p.

Research output: Contribution to journalArticle

Phenylalanine Hydroxylase
Phenylketonurias
Gene Amplification
Greece
DNA-Directed DNA Polymerase

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

Migeon, B. R., Axelman, J., Jan De Beur, S. M., Valle, D., Mitchell, G. A. & Rosenbaum, K. N., 1989, In : American Journal of Human Genetics. 44, 1, p. 100-106 7 p.

Research output: Contribution to journalArticle

Incontinentia Pigmenti
Lethal Genes
Hypoxanthine Phosphoribosyltransferase
Mutation
Methylation
1988

An initiator codon mutation in ornithine-δ-aminotransferase causing gyrate atrophy of the choroid and retina

Mitchell, G. A., Brody, L. C., Looney, J., Steel, G., Suchanek, M., Dowling, C., Der Kaloustian, V., Kaiser-Kupfer, M. & Valle, D., 1988, In : Journal of Clinical Investigation. 81, 2, p. 630-633 4 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Initiator Codon
Codon
Methionine

Conrneal tyrosine crystals in transient neonatal tyrosinemia

Driscoll, D. J., Jabs, E. W., Alcorn, D., Maumenee, I. H., Brusilow, S. W. & Valle, D., 1988, In : Journal of Pediatrics. 113, 1 PART 1, p. 91-93 3 p.

Research output: Contribution to journalArticle

Inborn Errors Amino Acid Metabolism
Tyrosinemias
Cornea
Tyrosine
Newborn Infant

Glutaric acidemia type II. Comparison of pathologic features in two infants

Colevas, A. D., Edwards, J. L., Hruban, R. H., Mitchell, G. A., Valle, D. & Hutchins, G. M., 1988, In : Archives of Pathology and Laboratory Medicine. 112, 11, p. 1133-1139 7 p.

Research output: Contribution to journalArticle

Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Kidney
Lissencephaly
Hyperammonemia
Flavoproteins

Human ornithine-δ-aminotransferase. cDNA cloning and analysis of the structural gene

Mitchell, G. A., Looney, J. E., Brody, L. C., Steel, G., Suchanek, M., Engelhardt, J. F., Willard, H. F. & Valle, D., 1988, In : Journal of Biological Chemistry. 263, 28, p. 14288-14295 8 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Ornithine
Cloning
Organism Cloning
Complementary DNA

Inborn Errors of Metabolism in Children Referred With Reye’s Syndrome: A Changing Pattern

Rowe, P., Valle, D. & Brusilow, S. W., Dec 2 1988, In : Journal of the American Medical Association. 260, 21, p. 3167-3170 4 p.

Research output: Contribution to journalArticle

Reye Syndrome
Inborn Errors Metabolism
Branched Chain Amino Acids
Inborn Genetic Diseases
Ornithine

Inborn errors of metabolism in the molecular age.

Valle, D. & Mitchell, G. A., 1988, In : Progress in medical genetics. 7, p. 100-129 30 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Molecular Cloning
Mutation
DNA

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Bartholomew, D. W., Batshaw, M. L., Allen, R. H., Roe, C. R., Rosenblatt, D., Valle, D. & Francomano, C. A., 1988, In : Journal of Pediatrics. 112, 1, p. 32-39 8 p.

Research output: Contribution to journalArticle

Betaine
Carnitine
Homocystine
Methionine
propionylcarnitine
1987

Clinical, biochemical, and therapeutic aspects of gyrate atrophy

Kaiser-Kupfer, M. I. & Valle, D., 1987, In : Progress in Retinal Research. 6, C, p. 179-206 28 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Therapeutics

Farber disease: pathologic diagnosis in sibs with phenotypic variability.

Qualman, S. J., Moser, H. W., Valle, D., Moser, A. B., Antonarakis, S. E., Boitnott, J. K. & Zinkham, W. H., 1987, In : American journal of medical genetics. Supplement. 3, p. 233-241 9 p.

Research output: Contribution to journalArticle

Farber Lipogranulomatosis
Ceramides
Histiocytic Sarcoma
Hoarseness
Autopsy

Genetic disease: An overview of current therapy

Valle, D., 1987, In : Hospital Practice. 22, 7, p. 167-182 16 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Pathology
Therapeutics
1986

The aqueous humor of rabbit contains high concentrations of pyrroline-5-carboxylate

Fleming, G. A., Steel, G., Valle, D., Granger, A. S. & Phang, J. M., 1986, In : Metabolism. 35, 10, p. 933-937 5 p.

Research output: Contribution to journalArticle

Aqueous Humor
Rabbits
Pentose Phosphate Pathway
Proline
Lenses

Waste nitrogen excretion via amino acid acylation: Benzoate and phenylacetate in lysinuric protein intolerance

Simell, O., Sipila, I., Rajantie, J., Valle, D. & Brusilow, S. W., 1986, In : Pediatric Research. 20, 11, p. 1117-1121 5 p.

Research output: Contribution to journalArticle

Aminoacylation
Benzoates
Alanine
Nitrogen
Amino Acids
1985

Gyrate atrophy of the choroid and retina

Kaiser-Kupfer, M. I., Ludwig, I. H., de Monasterio, F. M., Valle, D. & Krieger, I., 1985, In : Ophthalmology. 92, 3, p. 394-401 8 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Vertebrate Photoreceptor Cells
Arginine
Retina
Diet

Niemann-Pick Disease—Type C: Ocular Histopathologic and Electron Microscopic Studies

Palmer, M., Green, W. R., Maumenee, I. H., Valle, D., Singer, H., Morton, S. J. & Moser, H. W., 1985, In : Archives of Ophthalmology. 103, 6, p. 817-822 6 p.

Research output: Contribution to journalArticle

Optic Nerve
Retinal Ganglion Cells
Electrons
Type C Niemann-Pick Disease
Pallor
1984

Defective imino acid metabolism in hypoglycin-treated rats

Goodman, S. I. & Valle, D., Feb 1984, In : Biochemical Medicine. 31, 1, p. 97-103 7 p.

Research output: Contribution to journalArticle

Proline Oxidase
Imino Acids
Metabolism
Oral Administration
Rats

Early manifestations of multiple sulfatase deficiency

Burk, R. D., Valle, D., Thomas, G. H., Miller, C., Moser, A. B., Moser, H. & Rosenbaum, K. N., 1984, In : Journal of Pediatrics. 104, 4, p. 574-578 5 p.

Research output: Contribution to journalArticle

Multiple Sulfatase Deficiency Disease
Fibroblasts
Metachromatic Leukodystrophy
Mucopolysaccharidoses
Sulfoglycosphingolipids

Mutant cell lines resistant to azetidine-2-carboxylic acid: Alterations in the synthesis of proline from glutamic acid

Lodato, R. F., Smith, R. J., Valle, D. & Crane, K., 1984, In : Journal of Cellular Physiology. 119, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Azetidinecarboxylic Acid
Proline
Ornithine-Oxo-Acid Transaminase
Glutamic Acid
Cells

Phenotypic variability in siblings with Farber disease

Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A. B., Qualman, S. J. & Zinkham, W. H., 1984, In : Journal of Pediatrics. 104, 3, p. 406-409 4 p.

Research output: Contribution to journalArticle

Farber Lipogranulomatosis
Sphingolipidoses
Amidohydrolases
Femur Head
Humerus
1983

Aspartylglucosaminuria in the United States

Hreidarsson, S., Thomas, G. H., Valle, D., Stevenson, R. E., Taylor, H., McCarty, J., Coker, S. B. & Green, W. R., 1983, In : Clinical Genetics. 23, 6, p. 427-435 9 p.

Research output: Contribution to journalArticle

Aspartylglucosaminuria
Intellectual Disability
Population
Differential Diagnosis

Cataract in gyrate atrophy: Clinical and morphologic studies

Kaiser-Kupfer, M., Kuwabara, T., Uga, S., Takki, K. & Valle, D., 1983, In : Investigative Ophthalmology and Visual Science. 24, 4, p. 432-436 5 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Cataract
Sutures
Lenses
Retinal Degeneration
1982

Acute Hydrocephalus in Hurler’s Syndrome

Shinnar, S., Singer, H. & Valle, D., 1982, In : American Journal of Diseases of Children. 136, 6, p. 556-557 2 p.

Research output: Contribution to journalArticle

Cerebrospinal Fluid Shunts
Mucopolysaccharidosis I
X Ray Computed Tomography
Acute Disease
Preschool Children

Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport

Waber, L. J., Valle, D., Neill, C., DiMauro, S. & Shug, A., 1982, In : Journal of Pediatrics. 101, 5, p. 700-705 6 p.

Research output: Contribution to journalArticle

Carnitine
Cardiomyopathies
Heart Diseases
Reference Values
Kidney

Cataplexy in variant forms of Niemann-Pick disease

Kandt, R. S., Emerson, R. G., Singer, H., Valle, D. & Moser, H. W., 1982, In : Annals of Neurology. 12, 3, p. 284-288 5 p.

Research output: Contribution to journalArticle

Niemann-Pick Diseases
Cataplexy
Protriptyline
Narcolepsy
Telemetry

Gyrate atrophy of the choroid and retina.

Valle, D. & Kaiser-Kupfer, M., 1982, In : Progress in Clinical and Biological Research. 82, p. 123-134 12 p.

Research output: Contribution to journalArticle

Uveal Diseases
Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Recessive Genes
Pyridoxine

Mannosidosis in an adult

Montgomery, T. R., Thomas, G. H. & Valle, D., 1982, Johns Hopkins Medical Journal. 3 ed. Vol. 151. p. 113-116 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mannosidase Deficiency Diseases
Mannosidases
Mucopolysaccharidosis I
Mannose
Biochemistry

Mutant cell lines resistant to azetidine-2-carboxylic acid: Changes in the biosynthesis of proline from glutamic acid

Smith, R. J., Lodato, R. F. & Valle, D., 1982, In : Federation proceedings. 41, 4

Research output: Contribution to journalArticle

Azetidinecarboxylic Acid
Proline
Glutamic Acid
Cell Line

Screening for lethal genetic disease.

Brusilow, S. W., Valle, D., Batshaw, M. L. & Waber, L. J., Oct 1982, In : Pediatrics. 70, 4, p. 647-648 2 p.

Research output: Contribution to journalArticle

Inborn Errors Amino Acid Metabolism
Inborn Genetic Diseases
Genetic Testing
Newborn Infant