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Search Results to Kevin Strauss MD

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Strauss, Kevin

Item TypeName
Concept Disease Models, Animal
Concept Central Nervous System Diseases
Concept Brain Diseases, Metabolic, Inborn
Concept Autoimmune Diseases
Concept Bone Diseases
Concept Brain Diseases
Concept Brain Diseases, Metabolic
Concept Disease Progression
Concept Endocrine System Diseases
Concept Chronic Disease
Concept Acute Disease
Concept Genetic Predisposition to Disease
Concept Disease Management
Concept Muscular Diseases
Concept Genetic Diseases, Inborn
Concept Hirschsprung Disease
Concept Maple Syrup Urine Disease
Concept Sialic Acid Storage Disease
Concept Basal Ganglia Diseases
Concept Metabolic Diseases
Academic Article Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Academic Article Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Academic Article Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.
Academic Article Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
Academic Article Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
Academic Article Type I glutaric aciduria, part 1: natural history of 77 patients.
Academic Article Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Academic Article Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
Academic Article 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).
Academic Article Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Academic Article Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Academic Article Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Academic Article Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Academic Article Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
Academic Article Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Academic Article Glutaric aciduria type 1: a clinician's view of progress.
Academic Article Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
Academic Article Classical maple syrup urine disease and brain development: principles of management and formula design.
Academic Article Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Academic Article A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Academic Article Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Academic Article Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
Academic Article Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Academic Article Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.
Academic Article A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Academic Article One community's effort to control genetic disease.
Academic Article Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
Academic Article A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Academic Article Living related transplantation for MSUD--caution, or a new path forward?
Academic Article Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Academic Article Living related versus deceased donor liver transplantation for maple syrup urine disease.
Academic Article Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Academic Article Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Academic Article Genomic diagnostics within a medically underserved population: efficacy and implications.
Academic Article Disease burden of Crigler-Najjar syndrome: systematic review and future perspectives.
Academic Article Technique and outcome of Domino Liver Transplantation from patients with Maple Syrup Urine Disease: Expanding the donor pool for Live Donor Liver Transplantation.
Academic Article Branched-chain a-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Academic Article Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.
Academic Article Clinical and genetic validity of quantitative bipolarity.
Academic Article Liver transplant for inherited metabolic disease among siblings.

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