Kevin A Strauss

Summary

Affiliation: Clinic for Special Children
Country: USA

Publications

  1. pmc One community's effort to control genetic disease
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA17579, USA
    Am J Public Health 102:1300-6. 2012
  2. ncbi request reprint Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 130:1905-20. 2007
  3. doi request reprint Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 133:76-92. 2010
  4. ncbi 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
  6. 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
  7. ncbi request reprint Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 91:165-75. 2007
  8. ncbi request reprint Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    N Engl J Med 354:1370-7. 2006
  9. ncbi request reprint Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Eur J Pediatr 165:306-19. 2006
  10. ncbi request reprint Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Am J Med Genet A 138:262-7. 2005

Collaborators

Detail Information

Publications27

  1. pmc One community's effort to control genetic disease
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA17579, USA
    Am J Public Health 102:1300-6. 2012
    ....
  2. ncbi request reprint Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 130:1905-20. 2007
    ..04, 95% confidence interval = 0.01-0.34; P < 0.001)...
  3. doi request reprint Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 133:76-92. 2010
    ..This pilot study suggests important new areas for clinical investigation...
  4. ncbi 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
    ....
  6. 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...
  7. ncbi request reprint Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Mol Genet Metab 91:165-75. 2007
    ..To effectively support the metabolic requirements of rapid brain growth, a large dose of betaine should be started early in life...
  8. ncbi request reprint Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    N Engl J Med 354:1370-7. 2006
    ..Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2...
  9. ncbi request reprint Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Eur J Pediatr 165:306-19. 2006
    ..Lessons learned from CND can be applied to screening and therapy of non-hemolytic jaundice in otherwise healthy newborns...
  10. ncbi request reprint Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Am J Med Genet A 138:262-7. 2005
    ..In families with shared genetic heritage, genome-wide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations...
  11. ncbi request reprint Type I glutaric aciduria, part 1: natural history of 77 patients
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:38-52. 2003
    ..Uninjured children have good developmental outcomes and thrive within Amish and non-Amish communities...
  12. doi request reprint Genetics, medicine, and the Plain people
    Kevin A Strauss
    Clinic for Special Children, Strasburg, Pennsylvania 17579, USA
    Annu Rev Genomics Hum Genet 10:513-36. 2009
    ..Our studies with the Pennsylvania Plain communities show that population-specific genetic knowledge provides a powerful framework in which to prevent disease, reduce medical costs, and create new insights into human biology...
  13. ncbi request reprint Type I glutaric aciduria, part 2: a model of acute striatal necrosis
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:53-70. 2003
    ..The pathophysiology of the conditions is reviewed and a model proposed herein. We encourage investigators to test this model in an appropriate experimental system...
  14. ncbi request reprint Glutaric aciduria type 1: a clinician's view of progress
    Kevin A Strauss
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 128:697-9. 2005
  15. ncbi request reprint Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5
    Erik G Puffenberger
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Brain 130:1929-41. 2007
    ....
  16. pmc Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, PA 17579, USA
    Proc Natl Acad Sci U S A 101:11689-94. 2004
    ..These results shed light on the pathogenesis of a disorder of sexual differentiation and brainstem-mediated sudden death, as well as give insight into a mechanism of transcriptional regulation...
  17. doi request reprint A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, PA 17579, USA
    Hum Mutat 33:1639-46. 2012
    ..Hum Mutat 33:1639-1646, 2012. © 2012 Wiley Periodicals, Inc...
  18. ncbi request reprint Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
    D Holmes Morton
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:5-17. 2003
    ....
  19. pmc Genetic mapping and exome sequencing identify variants associated with five novel diseases
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, Pennsylvania, United States of America
    PLoS ONE 7:e28936. 2012
    ..Our results reveal the power of coupling new genotyping technologies to population-specific genetic knowledge and robust clinical data...
  20. ncbi request reprint Diagnosis and treatment of maple syrup disease: a study of 36 patients
    D Holmes Morton
    Clinic for Special Children, Strasburg Pennsylvania 17579, USA
    Pediatrics 109:999-1008. 2002
    ..To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD)...
  21. 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...
  22. 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...
  23. pmc Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
    Kevin A Strauss
    Clinic for Special Children, Strasburg, PA 17579, USA
    Proc Natl Acad Sci U S A 110:3453-8. 2013
    ..Patients with the haplogroup U mtDNAs had more rapid and severe cardiomyopathy than those with haplogroup H...
  24. ncbi request reprint Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
    Victoria E H Carlton
    Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, California 94110, USA
    Nat Genet 34:91-6. 2003
    ..Mutations in both TJP2 and BAAT may disrupt bile acid transport and circulation. Inheritance seems to be oligogenic, with genotype at BAAT modifying penetrance in individuals homozygous with respect to the mutation in TJP2...
  25. doi request reprint Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
    Devin Oglesbee
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 54:542-9. 2008
    ..To improve the specificity of newborn screening for MSUD and to reduce the number of diet-related false-positive results, we developed a LC-MS/MS method for quantifying allo-Ile...
  26. ncbi request reprint Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice
    Grazyna Chwatko
    Department of Microbiology and Molecular Genetics, UMDNJ New Jersey Medical School, International Center for Public Health, 225 Warren St, Newark, NJ 07101 1709, USA
    FASEB J 21:1707-13. 2007
    ..7-fold and 25-fold increases in plasma and urinary Hcy-thiolactone levels, respectively. Thus, we conclude that hyperhomocysteinemia leads to significant increases in the atherogenic metabolite Hcy-thiolactone in humans and mice...
  27. ncbi request reprint Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
    Richard I Kelley
    Division of Metabolism, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Am J Med Genet 112:318-26. 2002
    ..Amish lethal microcephaly maps to 17q25 and may be caused by a defect in a mitochondrial inner membrane protein functioning as a 2-ketoglutarate transporter...