Research Topics
| Kevin A StraussSummaryAffiliation: Clinic for Special Children Country: USA Publications
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Detail Information
Publications
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influxKevin 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...- Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiencyKevin 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)... - Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiencyKevin 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... - Genetics, medicine, and the Plain peopleKevin 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... - Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2Kevin 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... - Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar diseaseKevin 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... - Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite populationKevin 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... - Glutaric aciduria type 1: a clinician's view of progressKevin A Strauss
Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
Brain 128:697-9. 2005 - Type I glutaric aciduria, part 2: a model of acute striatal necrosisKevin 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... - Type I glutaric aciduria, part 1: natural history of 77 patientsKevin 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... - Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiencyKevin 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... - Classical maple syrup urine disease and brain development: principles of management and formula designKevin A Strauss
Clinic for Special Children, Strasburg, PA 17579, USA
Mol Genet Metab 99:333-45. 2010.... - Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiencyKevin 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... - Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5Erik G Puffenberger
Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
Brain 130:1929-41. 2007.... - Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of functionErik 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... - Pediatric medicine and the genetic disorders of the Amish and Mennonite people of PennsylvaniaD 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.... - Diagnosis and treatment of maple syrup disease: a study of 36 patientsD Holmes Morton
Clinic for Special Children, Strasburg Pennsylvania 17579, USA
Pediatrics 109:999-1008. 2002.... - Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease managementNicholas 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... - Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasiaNicholas 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... - Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAATVictoria 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... - 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... - Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduriaRichard 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... - Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and miceGrazyna 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...