• Publications
  • Influence
The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York,
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the large audience of specialists all over the world. Published in 1960, theExpand
The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001
  • C. Scriver
  • Chemistry
  • Journal of Inherited Metabolic Disease
  • 1 February 2001
I. INTRODUCTION II. PERSPECTIVES III. GENERAL THEMES IV. CANCER V. CHROMOSOMES VI. DIAGNOSTIC APPROACHES VII. CARBOHYDRATES VIII. AMINO ACIDS IX. ORGANIC ACIDS X. DISORDERS OF MITOCHONDRIAL FUNCTIONExpand
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.
TLDR
From demographic data, it is deduced that virtually all the carriers identified in the high-school screening program remembered their status, had their partner tested if they did not already know they were a carrier couple, and took up the options for reproductive counseling/prenatal diagnosis. Expand
Phenylalanine hydroxylase deficiency
TLDR
The mainstay of treatment for hyperphenylalaninemia involves a low-protein diet and use of a phenylalanine-free medical formula and should commence as soon as possible after birth and should continue for life. Expand
The PAH gene, phenylketonuria, and a paradigm shift
  • C. Scriver
  • Biology, Medicine
  • Human mutation
  • 1 September 2007
TLDR
The PKU story contains many messages, including: a framework on which to appreciate the complexity of PKU in which phenotype reflects both locus‐specific and genomic components; what the human PAH gene tells us about human population genetics and evolution of modern humans; and how the interest in PKU is served by a locus-specific mutation database. Expand
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
TLDR
The biochemical and kinetic characterization of the 15 mutants studied points toward a multifactorial basis for the BH4 responsiveness; the mutants show residual activity (>30% of WT) and display various kinetic defects, including increased Km (BH4) and reduced cooperativity of substrate binding, but no decoupling of cofactor (Bh4) oxidation. Expand
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.
TLDR
A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified and the Hyp gene is presemably homologous with the X-linked human gene. Expand
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
TLDR
Patients who receive nitisinone treatment before 1 month had no detectable liver disease after more than 5 years, and some patients with established liver disease before nitis inone treatment eventually require hepatic transplantation. Expand
Human genetics: lessons from Quebec populations.
  • C. Scriver
  • Medicine
  • Annual review of genomics and human genetics
  • 2001
TLDR
Genealogical estimates of historical meioses and analysis of linkage disequilibrium show that sectors of this young population are suitable for linkage diseqilibrium mapping of rare alleles, and how the population benefits from what is being learned about its structure and how its uniqueness could facilitate construction of a genomic map of linkage Disequilibrium are discussed. Expand
Monogenic traits are not simple: lessons from phenylketonuria.
TLDR
Phenylketonuria is a classic 'monogenic' autosomal recessive disease in which mutation at the human PAH locus was deemed sufficient to explain the impaired function of the enzyme phenylalanine hydroxylase, the attendant hyperphenylalaninemia and the resultant mental retardation. Expand
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