Nicholas L Rider

Summary

Affiliation: Clinic for Special Children
Country: USA

Publications

  1. doi request reprint Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia
    Nicholas L Rider
    Penn State Hershey Medical Center, Division of Allergy and Immunology, Hershey, PA 17033, USA
    Clin Immunol 131:119-28. 2009
  2. doi request reprint Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management
    Nicholas L Rider
    Clinic for Special Children, Strasburg, Pennsylvania, PA 17579, USA
    Am J Hematol 86:827-34. 2011
  3. doi request reprint Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 104:93-106. 2011
  4. doi request reprint Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency
    Kevin A Strauss
    Clinic for Special Children, Strasburg, Pennsylvania 17579, USA
    Clin Immunol 128:31-8. 2008
  5. pmc Classical maple syrup urine disease and brain development: principles of management and formula design
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 99:333-45. 2010

Detail Information

Publications5

  1. doi request reprint Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia
    Nicholas L Rider
    Penn State Hershey Medical Center, Division of Allergy and Immunology, Hershey, PA 17033, USA
    Clin Immunol 131:119-28. 2009
    ..Gauging this risk is difficult, and thus careful monitoring of all patients with cartilage-hair hypoplasia is warranted...
  2. doi request reprint Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management
    Nicholas L Rider
    Clinic for Special Children, Strasburg, Pennsylvania, PA 17579, USA
    Am J Hematol 86:827-34. 2011
    ..A high prevalence of HFE gene mutations exists in this population and may contribute to iron-related morbidity. Based on our observations, we present a strategy for long-term management of pyruvate kinase deficiency...
  3. doi request reprint Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 104:93-106. 2011
    ..Monitoring the ratio between lysine and arginine in diet and plasma may prove a useful strategy for treating children with GA1...
  4. doi request reprint Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency
    Kevin A Strauss
    Clinic for Special Children, Strasburg, Pennsylvania 17579, USA
    Clin Immunol 128:31-8. 2008
    ..Autozygosity and linkage analysis of SNP genotypes within a family narrows the search for SCID candidate genes and provides a relatively simple and inexpensive way to identify potential tissue donors among biological siblings...
  5. pmc Classical maple syrup urine disease and brain development: principles of management and formula design
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 99:333-45. 2010
    ....