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Strauss, Kevin

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

Item Type	Name
Concept	Adolescent
Concept	Child, Preschool
Concept	Child
Concept	Child Development Disorders, Pervasive
Academic Article	Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
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	Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Academic Article	Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
Academic Article	Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Academic Article	Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Academic Article	Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Academic Article	TNNT1 nemaline myopathy: natural history and therapeutic frontier.
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	Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.
Academic Article	Hepatic Parenchymal Injury in Crigler-Najjar Type I.
Academic Article	Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
Academic Article	Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Academic Article	Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Academic Article	Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Academic Article	Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
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	Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias.
Academic Article	A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Academic Article	Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.
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	Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
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	STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice.
Academic Article	Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Academic Article	CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Academic Article	Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.
Academic Article	Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Academic Article	Heritability of complex white matter diffusion traits assessed in a population isolate.
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	A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Academic Article	A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Academic Article	Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
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	Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Academic Article	Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
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 ?-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Academic Article	Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Academic Article	Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Academic Article	Orthopaedic manifestations of glutaric acidemia Type 1.
Academic Article	Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease.
Academic Article	Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience.
Academic Article	Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
Academic Article	APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Academic Article	Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Academic Article	Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Academic Article	Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.

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