Scriver, Charles : rechercher sur Z-Library

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51

Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: Evidence for a defect in the brush border membrane

Tenenhouse, Harriet S, Scriver, Charles R, McInnes, Roderick, Glorieux, Francis H

Journal:

Kidney International

Année:

1978

Langue:

english

Fichier:

PDF, 762 KB

english, 1978

52

Alkaptonuria: such a long journey

Scriver, Charles R.

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 274 KB

1996

53

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

Carter, Kevin C, Byck, Susan, Waters, Paula J, Richards, Brent, Nowacki, Piotr M, Laframboise, Rachel, Lambert, Marie, Treacy, Eileen, Scriver, Charles R

Journal:

European Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 487 KB

english, 1998

54

The principles of human biochemical genetics. By Harry Harris. North-Holland, Amsterdam; American Elsevier, New York. 328 pp. 1970

Charles R. Scriver

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1972

Langue:

english

Fichier:

PDF, 198 KB

english, 1972

55

Map, dictionary and directory of the human genome: reliable knowledge for research and couselling

Charles R. Scriver

Journal:

Trends in Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 106 KB

english, 1985

56

Soundings at the PKU locus

Charles R. Scriver

Journal:

Trends in Genetics

Année:

1986

Langue:

english

Fichier:

PDF, 400 KB

english, 1986

57

The prevention and avoidance of genetic disease: Proceedings of a Royal Society Discussion Meeting, edited by J. H. Edwards, M. F. Lyon and E. M. Southern, The Royal Society, London 1988. £32.50 (UK), £34.50 (elsewhere) (viii + 157 pages) ISBN 0 85403 352 1

Charles R. Scriver

Journal:

Trends in Genetics

Année:

1989

Langue:

english

Fichier:

PDF, 137 KB

english, 1989

58

Principles of Medical Genetics: by T.D. Gelehrter and F.S. Collins, Williams and Wilkins, 1990. λ17.95, $34.95 (ix + 324 pages) ISBN 0 683 09411 4

Charles R. Scriver

Journal:

Trends in Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 249 KB

english, 1990

59

GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6 DEPENDENCY WITH SEIZURES

Charles R. Scriver, Donald T. Whelan

Journal:

Annals of the New York Academy of Sciences

Année:

1969

Langue:

english

Fichier:

PDF, 920 KB

english, 1969

60

MUTANTS: CONSUMERS WITH SPECIAL NEEDS

Charles R. Scriver

Journal:

Nutrition Reviews

Année:

1971

Langue:

english

Fichier:

PDF, 301 KB

english, 1971

61

Phenylalanine hydroxylase deficiency :

Mitchell, John J., Trakadis, Yannis J., Scriver, Charles R.

Journal:

Genetics in Medicine

Année:

2011

Langue:

english

Fichier:

PDF, 347 KB

english, 2011

62

Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes

Jacques Poudrier, Francine Lettre, Charles R. Scriver, Jean Larochelle, Robert M. Tanguay

Journal:

Molecular Genetics and Metabolism

Année:

1998

Langue:

english

Fichier:

PDF, 444 KB

english, 1998

63

Is There Treatment for “Genetic” Disease?

Charles R. Scriver, Eileen P. Treacy

Journal:

Molecular Genetics and Metabolism

Année:

1999

Langue:

english

Fichier:

PDF, 160 KB

english, 1999

64

A Heteroallelic Mutant Mouse Model: A New Orthologue for Human Hyperphenylalaninemia

Christineh N. Sarkissian, Danielle M. Boulais, J.David McDonald, Charles R. Scriver

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 198 KB

english, 2000

65

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

Paula J. Waters, Michael A. Parniak, Beverly R. Akerman, Charles R. Scriver

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 185 KB

english, 2000

66

The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

Toshiyuki Fukao, Charles R. Scriver, Naomi Kondo

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 63 KB

english, 2001

67

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype: Volume 69, Number 2 (2000), pages 101–110

Paula J. Waters, Michael A. Parniak, Beverly R. Akerman, Charles R. Scriver

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 13 KB

english, 2001

68

Homomeric and Heteromeric Interactions between Wild-Type and Mutant Phenylalanine Hydroxylase Subunits: Evaluation of Two-Hybrid Approaches for Functional Analysis of Mutations Causing Hyperphenylalaninemia

Paula J. Waters, Charles R. Scriver, Michael A. Parniak

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 95 KB

english, 2001

69

Rickets and the pathogenesis of impaired tubular transport of phosphate and other solutes

Charles R. Scriver

Journal:

The American Journal of Medicine

Année:

1974

Langue:

english

Fichier:

PDF, 853 KB

english, 1974

70

Proline transport into isolated rat glomeruli

Susan Mackenzie, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1970

Langue:

english

Fichier:

PDF, 183 KB

english, 1970

71

Transport of l-proline and α-aminoisobutyric acid in the isolated rat kidney glomerulus

Susan Mackenzie, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1971

Langue:

english

Fichier:

PDF, 821 KB

english, 1971

72

The isolation and properties of a β-alanine permeaseless mutant of Pseudomonas fluorescens

Peter Hechtman, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1970

Langue:

english

Fichier:

PDF, 528 KB

english, 1970

73

The ontogeny of amino acid transport in rat kidney I. Effect on distribution ratios and intracellular metabolism of proline and glycine

Kurt E. Baerlocher, Charles R. Scriver, Fazl Mohyuddin

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1971

Langue:

english

Fichier:

PDF, 619 KB

english, 1971

74

The ontogeny of amino acid transport in rat kidney II. Kinetics of uptake and effect of anoxia

Kurt E. Baerlocher, Charles R. Scriver, Fazl Mohyuddin

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1971

Langue:

english

Fichier:

PDF, 503 KB

english, 1971

75

Topology of membrane exposure in the renal cortex slice. Studies of glutathione and maltose cleavage

Marie-Françoise Arthus, Michel Bergeron, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1982

Langue:

english

Fichier:

PDF, 431 KB

english, 1982

76

Sulfate transport by mouse renal cortical slices does not represent uptake by brush-border membrane

David E.C. Cole, Magdolna Koltay, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1984

Langue:

english

Fichier:

PDF, 662 KB

english, 1984

77

A γ-aminobutyric acid-specific transport mechanism in mammalian kidney

Paul R. Goodyer, Rima Rozen, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1985

Langue:

english

Fichier:

PDF, 736 KB

english, 1985

78

Transport competence of plasma membrane vesicles from cultured human fibroblasts

Janet A. Buchanan, David S. Rosenblatt, Charles R. Scriver

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1985

Langue:

english

Fichier:

PDF, 507 KB

english, 1985

79

Pyruvate carboxylase in human liver: Apparent loss of a component of catalytic activity in a form of lactic acidosis with hypoglycemia

Edgard Delvin, Charles R. Scriver, J.L. Neal

Journal:

Biochemical Medicine

Année:

1974

Langue:

english

Fichier:

PDF, 573 KB

english, 1974

80

Thin-layer chromatography assay of the branched-chain 2-oxo-acid dehydrogenase complex(es)

Steven Buhl, Charles R. Scriver

Journal:

Biochemical Medicine

Année:

1977

Langue:

english

Fichier:

PDF, 638 KB

english, 1977

81

The application of an automated hexosaminidase assay to genetic screening

Edgard Delvin, Angela Pottier, Charles R. Scriver, Reynold J.M. Gold

Journal:

Clinica Chimica Acta

Année:

1974

Langue:

english

Fichier:

PDF, 887 KB

english, 1974

82

Inorganic sulfate in cerebrospinal fluid from infants and children

David E.C. Cole, Jamshid Shafai, Charles R. Scriver

Journal:

Clinica Chimica Acta

Année:

1982

Langue:

english

Fichier:

PDF, 407 KB

english, 1982

83

Glutaric acidemia type II: Neuroimaging and spectroscopy evidence for developmental encephalomyopathy

Michael I. Shevell, Gabriel Didomenicantonio, Michel Sylvain, Douglas L. Arnold, Augustin M. O'Gorman, Charles R. Scriver

Journal:

Pediatric Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 381 KB

english, 1995

84

The last day of the past is the first day of the future: Transitional care for genetic patients

Charles R. Scriver, Philip J. Lee

Journal:

The American Journal of Medicine

Année:

2004

Langue:

english

Fichier:

PDF, 51 KB

english, 2004

85

New approaches to treat PKU: How far are we?

Nenad Blau, Charles R. Scriver

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 70 KB

english, 2004

86

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria

Lin Wang, Alejandra Gamez, Christineh N. Sarkissian, Mary Straub, Marianne G. Patch, Gye Won Han, Steve Striepeke, Paul Fitzpatrick, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 381 KB

english, 2005

87

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria

Alejandra Gámez, Lin Wang, Christineh N. Sarkissian, Dan Wendt, Paul Fitzpatrick, Jeffrey F. Lemontt, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2007

88

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment

Harvey Levy, Barbara Burton, Stephen Cederbaum, Charles Scriver

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 411 KB

english, 2007

89

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

Philippe M. Campeau, Charles R. Scriver, John J. Mitchell

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 571 KB

english, 2008

90

Converting an injectable protein therapeutic into an oral form: Phenylalanine ammonia lyase for phenylketonuria

Tse Siang Kang, Lin Wang, Christineh N. Sarkissian, Alejandra Gámez, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2010

91

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria

Christineh N. Sarkissian, Tse Siang Kang, Alejandra Gámez, Charles R. Scriver, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 199 KB

english, 2011

92

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria

David Chitayat, Kathleen Meagher-Villemure, Orval A. Mamer, Augustin O'Gorman, David I. Hoar, Kenneth Silver, Charles R. Scriver

Journal:

The Journal of Pediatrics

Année:

1992

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1992

93

Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics

Charles R. Scriver

Journal:

The Journal of Pediatrics

Année:

2002

Langue:

english

Fichier:

PDF, 84 KB

english, 2002

94

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

Emre Kayaalp, Eileen Treacy, Paula J. Waters, Susan Byck, Piotr Nowacki, Charles R. Scriver

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 109 KB

english, 1997

95

… And Know the Place for the First Time

Charles R. Scriver

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 699 KB

english, 2002

96

Aminoaciduria in vitamin D-deficiencyrickets and in disturbances of parathyroid function

Charles R. Scriver, Sang Whey Kooh, Donald Fraser

Journal:

The Journal of Pediatrics

Année:

1964

Langue:

english

Fichier:

PDF, 236 KB

english, 1964

97

Multiple amino acid carrier systemsin plasma membranes: Genetic implications

Charles R. Scriver, Onslow H. Wilson

Journal:

The Journal of Pediatrics

Année:

1964

Langue:

english

Fichier:

PDF, 224 KB

english, 1964

98

A molecular abnormality of keratin in ectodermal dysplasia

Charles R. Scriver, Clive C. Solomons, Eluned Davies, Melodie Williams, John Bolton

Journal:

The Journal of Pediatrics

Année:

1965

Langue:

english

Fichier:

PDF, 101 KB

english, 1965

99

We Mean Well: Treatment of Mendelian Disease

Charles R. Scriver

Journal:

Pediatrics International

Année:

1988

Langue:

english

Fichier:

PDF, 723 KB

english, 1988

100

Cultured Human Fibroblasts and Plasma Membrane Vesicles to Investigate Transport Function and the Effects of Genetic Mutation

JANET A. BUCHANAN, DAVID S. ROSENBLATT, CHARLES R. SCRIVER

Journal:

Annals of the New York Academy of Sciences

Année:

1985

Langue:

english

Fichier:

PDF, 138 KB

english, 1985