Physician
Pediatrics
Dr. Kevin A. Strauss, MD
|
|
Give Review
Kevin A. Strauss practices Pediatrics. He researched medicine at Harvard Medical School. Harvard Medical School is one of the top medical schools in the US. Harvard Medical School is ranked 1/12 in Research/PrimaryCare. Kevin A. Strauss is a published doctor and has 61 publications published. The lastest was: 'Performance evaluation of the FACSCount System: a dedicated system for clinical cellular analysis.'
Publications
- Heritability of complex white matter diffusion traits assessed in a population isolate.
- A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
- Living related transplantation for MSUD - Caution, or a new path forward?
- Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.
- CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
- Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing.
- A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
- A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
- Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder.
- Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities.
- Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
- A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
- Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.
- Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx.
- Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management.
- Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
- Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia.
- A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome.
- Classical maple syrup urine disease and brain development: principles of management and formula design.
- Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
- Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
- A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
- Genetics, medicine, and the Plain people.
- Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
- Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
- Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
- 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 (M...
- Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
- Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and...
- Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
- Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
- Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
- Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
- Type I glutaric aciduria, part 1: natural history of 77 patients.
- Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
- Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.
- Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
- Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
- Diagnosis and treatment of maple syrup disease: a study of 36 patients.
- Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.
- Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
- Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
- Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
- Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
- Glutaric aciduria type 1: a clinician''s view of progress.
- Elective liver transplantation for the treatment of classical maple syrup urine disease.
- Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.
- Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids.
- STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice.
- Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias.
- Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.
- Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.
- Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
- The effect of random voice hand hygiene messages delivered by medical, nursing, and infection control staff on hand hygiene compliance in intensive care.
- Toward comprehensive obesity prevention programs in Native American communities.
- Age-related changes in human blood lymphocyte subpopulations. II. Varying kinetics of percentage and absolute count measurements.
- Performance evaluation of the FACSCount System: a dedicated system for clinical cellular analysis.
- Developmental changes in phosphatidylinositol transfer protein concentration and phospholipid transfer activities in rat type II cells.
- Organization of the human serotonin transporter gene.
- Isolation status and voice prompts improve hand hygiene.
Schools
Harvard Medical School
Doctors Specialties
- Pediatrics
Accepted Insurances
Education
-
Boston Children's Hospital -
Harvard Medical School
Helpful Reviews
Similar Doctors
|
|
Dr. David H. Morton II, MD |
|
|
Dr. Katie B. Williams, MD |