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Medicine

D-Index
85
Citations
26045
World Ranking
14632
National Ranking
7403

Research.com Recognitions

  • 2001 - Member of the National Academy of Medicine (NAM)
  • 1988 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

William L. Nyhan is affiliated with the University of California, San Diego in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Within these domains, their work includes notable subfields such as Molecular Biology, Clinical Biochemistry, Infectious Diseases, Epidemiology, and Biochemistry.

Their scientific contributions encompass several main topics, including:

  • Biochemical and Molecular Research
  • Metabolism and Genetic Disorders
  • HIV/AIDS drug development and treatment
  • Amino Acid Enzymes and Metabolism
  • Mitochondrial Function and Pathology
  • Infectious Encephalopathies and Encephalitis
  • Cytomegalovirus and herpesvirus research

Recent publications by William L. Nyhan include:

  • "The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation," published in 2020 in JIMD Reports
  • "Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)," published in 2020 in Nucleosides Nucleotides & Nucleic Acids

Their frequent co-authors include Gerard T. Berry, Didem Demirbas, Bruce A. Barshop, Nicholas Ah Mew, and Wado Akamatsu.

William L. Nyhan has contributed publications to venues such as JIMD Reports and Nucleosides Nucleotides & Nucleic Acids.

William L. Nyhan has been recognized as a Member of the National Academy of Medicine (NAM) since 2001 and has held the title of Fellow of the American Association for the Advancement of Science (AAAS) since 1988.

Best Publications

  • A familial disorder of uric acid metabolism and central nervous system function

    Michael Lesch;William L. Nyhan

  • Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

    Kumar Sharma;Bethany Karl;Anna V. Mathew;Jon A. Gangoiti

  • Evaluation of oral bronchodilator therapy in asthmatic children. Bronchodilators in asthmatic children.

    William L. Nyhan;Harry C. Shirkey;Miles M. Weinberger;Miles M. Weinberger;Edwin A. Bronsky;Edwin A. Bronsky

  • Disorders of purine and pyrimidine metabolism.

    William L. Nyhan

  • Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

    G F Hoffmann;C Charpentier;E Mayatepek;J Mancini

  • A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-Deficient Breast-Fed Infant of a Strict Vegetarian

    Marilyn C. Higginbottom;Laurence Sweetman;William L. Nyhan

  • Delineation of the motor disorder of Lesch-Nyhan disease

    H. A. Jinnah;Jasper E. Visser;James C. Harris;Alfonso Verdu;Alfonso Verdu

  • IDIOPATHIC HYPERGLYCINEMIA AND HYPERGLYCINURIA: A NEW DISORDER OF AMINO ACID METABOLISM. I

    Barton Childs;William L. Nyhan;Margaret Borden;Leslie Bard

  • The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

    H.A. Jinnah;Laura De Gregorio;James C. Harris;William L. Nyhan

  • Glutaric aciduria Type II

    Lawrence Sweetman;William L. Nyhan;Doris A. Trauner;T. Allen Merritt

  • Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.

    Francois X. Coude;Lawrence Sweetman;William L. Nyhan

  • Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder

    Roger N. Rosenberg;William L. Nyhan;Carolyn Bay;Parkhurst Shore

  • Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.

    G Hoffmann;S Aramaki;E Blum-Hoffmann;W L Nyhan

  • Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

    Robert K. Naviaux;William L. Nyhan;Bruce A. Barshop;Joanna Poulton

  • X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

    Barbara R. Migeon;Vazken M. Der Kaloustian;William L. Nyhan;William J. Young

  • Physiology and pathophysiology of organic acids in cerebrospinal fluid

    G. F. Hoffmann;W. Meier-Augenstein;S. Stöckler;R. Surtees

  • Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

    Morton J. Cowan;Seymour Packman;Diane W. Wara;Arthur J. Ammann

  • Septicemia of the newborn.

    William L. Nyhan;Mildred D. Fousek

  • Self-injurious behavior: Gene-brain-behavior relationships

    Stephen R. Schroeder;Mary Lou Oster-Granite;Gershon Berkson;James W. Bodfish

  • Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.

    T. Page;B. Bakay;E. Nissinen;W. L. Nyhan

Frequent Co-Authors

Lawrence Sweetman
Lawrence Sweetman University of California, San Diego
Georg F. Hoffmann
Georg F. Hoffmann University Hospital Heidelberg
Alice L. Yu
Alice L. Yu University of California, San Diego
Hyder A. Jinnah
Hyder A. Jinnah Emory University
Uta Francke
Uta Francke Stanford University
Kenneth L. Jones
Kenneth L. Jones University of California, San Diego
David J. Schretlen
David J. Schretlen Johns Hopkins University School of Medicine
Marinus Duran
Marinus Duran University of Amsterdam
Doris A. Trauner
Doris A. Trauner University of California, San Diego
Harris Busch
Harris Busch Baylor College of Medicine

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