Charles R. Scriver

Overview

Best Publications

• The Metabolic basis of inherited disease

  Charles R.scriver

  872
  Citations

• COMMITTEE ON NUTRITION

  Charles U. Lowe;David Baird Coursin;Felix P. Heald;Malcolm A. Holliday

  705
  Citations

• Phenylalanine hydroxylase deficiency

  John J Mitchell;Yannis J Trakadis;Charles R Scriver

  671
  Citations

• Monogenic traits are not simple: lessons from phenylketonuria

  Charles R. Scriver;Paula J. Waters

  585
  Citations

• Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

  Eva M. Eicher;Janice L. Southard;Charles R. Scriver;Francis H. Glorieux

  556
  Citations

• A rapid procedure for extracting genomic DNA from leukocytes

  S.W.M. John;G. Weitzner;R. Rozen;C.R. Scriver

  516
  Citations

• The PAH gene, phenylketonuria, and a paradigm shift

  Charles R. Scriver

  413
  Citations

• Commentary on Breast-Feeding and Infant Formulas, Including Proposed Standards for Formulas

  Lewis A. Barness;Alvin M. Mauer;Malcolm A. Holliday;Arnold S. Anderson

  385
  Citations

• Amino acid metabolism and its disorders

  Charles R. Scriver;Leon E. Rosenberg

  322
  Citations

• Proof of “disease causing” mutation

  R. G. H. Cotton;C. R. Scriver

  288
  Citations

• A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase.

  Christineh N. Sarkissian;Zhongqi Shao;Françoise Blain;Rosalie Peevers

  286
  Citations

• Labile methyl group balances in the human: the role of sarcosine.

  S.Harvey Mudd;Michael H. Ebert;Charles R. Scriver

  265
  Citations

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

  Emre Kayaalp;Eileen Treacy;Eileen Treacy;Paula J. Waters;Paula J. Waters;Susan Byck

  252
  Citations

• Human genetics: lessons from Quebec populations

  Charles R. Scriver

  245
  Citations

• Use of Phosphate and Vitamin D to Prevent Dwarfism and Rickets in X-Linked Hypophosphatemia

  Francis H. Glorieux;Charles R. Scriver;Terry M. Reade;Hy Goldman

  225
  Citations

• Loss of a Parathyroid Hormone-Sensitive Component of Phosphate Transport in X-Linked Hypophosphatemia

  Francis Glorieux;Charles R. Scriver

  218
  Citations

• PAHdb 2003: what a locus-specific knowledgebase can do.

  Charles R. Scriver;Charles R. Scriver;Mélarnie Hurtubise;David Konecki;Manyphong Phommarinh

  209
  Citations

• Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

  Heidi Erlandsen;Angel L. Pey;Angel L. Pey;Alejandra Gámez;Belén Pérez

  208
  Citations

• THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

  C.R. Scriver;C.L. Clow;S. Mackenzie;E. Delvin

  204
  Citations

• Age at Onset and Causes of Disease

  Barton Childs;Charles R. Scriver

  198
  Citations