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Strauss, Kevin

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

Item Type	Name
Concept	Kruppel-Like Transcription Factors
Concept	Otoacoustic Emissions, Spontaneous
Concept	Piperazines
Concept	Hyperhomocysteinemia
Concept	Osteochondrodysplasias
Concept	Disease Models, Animal
Concept	Fibroblasts
Concept	DNA Methylation
Concept	Central Nervous System Diseases
Concept	Ki-67 Antigen
Concept	Sequence Analysis, DNA
Concept	Spastic Paraplegia, Hereditary
Concept	Brain Diseases, Metabolic, Inborn
Concept	Methionine
Concept	Transforming Growth Factor beta
Concept	Survival Rate
Concept	Health Services Accessibility
Concept	Blood-Brain Barrier
Concept	Kaplan-Meier Estimate
Concept	Genetic Association Studies
Concept	Caspase 2
Concept	Evoked Potentials, Auditory, Brain Stem
Concept	Methylenetetrahydrofolate Reductase (NADPH2)
Concept	Vasoconstriction
Concept	Food, Formulated
Concept	Pedigree
Concept	Humans
Concept	Body Weights and Measures
Concept	Sequence Analysis, RNA
Concept	Prosencephalon
Concept	Ursodeoxycholic Acid
Concept	Progesterone Reductase
Concept	Mitochondria
Concept	Hearing
Concept	Flow Cytometry
Concept	Brain Diseases
Concept	Glutamic Acid
Concept	Hernia, Hiatal
Concept	HeLa Cells
Concept	Heterozygote
Concept	Genetic Therapy
Concept	SOX Transcription Factors
Concept	Postmortem Changes
Concept	Cell Nucleus
Concept	Amino Acyl-tRNA Synthetases
Concept	Magnetic Resonance Imaging
Concept	Movement Disorders
Concept	Age of Onset
Concept	Gene Expression
Concept	Yeasts
Concept	Hair
Concept	Microcephaly
Concept	Rare Diseases
Concept	Nephrosis
Concept	Forkhead Transcription Factors
Concept	Gyrus Cinguli
Concept	Brain Diseases, Metabolic
Concept	PC12 Cells
Concept	Imidazoles
Concept	Polymorphism, Single Nucleotide
Concept	Telomere
Concept	Microscopy, Electron, Transmission
Concept	Disease Progression
Concept	Creatine
Concept	Methyltransferases
Concept	Ubiquitination
Concept	Cadherins
Concept	Organogenesis
Concept	Hereditary Sensory and Autonomic Neuropathies
Concept	Sensitivity and Specificity
Concept	Tyrosine-tRNA Ligase
Concept	Propionates
Concept	Axons
Concept	Homocystinuria
Concept	Genetics, Population
Concept	Cell Survival
Concept	Gonadal Dysgenesis
Concept	Registries
Concept	Dependovirus
Concept	Treatment Outcome
Concept	Depressive Disorder, Major
Concept	Cytarabine
Concept	Glycine N-Methyltransferase
Concept	Golgi Apparatus
Concept	Betaine
Concept	Patient-Centered Care
Concept	Genomics
Concept	Sudden Infant Death
Concept	Mannitol
Concept	Healthcare Disparities
Concept	Liver Function Tests
Concept	Ketone Oxidoreductases
Concept	Depression
Concept	Genetic Testing
Concept	Amino Acid Substitution
Concept	Genomic Imprinting
Concept	Sex-Determining Region Y Protein
Concept	Acids
Concept	Open Reading Frames
Concept	Erythrocytes
Concept	Glutarates
Concept	Syndrome
Concept	Wisconsin
Concept	Dendritic Cells
Concept	Genes
Concept	Ellis-Van Creveld Syndrome
Concept	Chronic Disease
Concept	Magnetic Resonance Angiography
Concept	Genes, RAG-1
Concept	Amino Acid Sequence
Concept	Algorithms
Concept	Corpus Callosum
Concept	Neurogenesis
Concept	Saline Solution, Hypertonic
Concept	Mice, Knockout
Concept	Carbon-Carbon Ligases
Concept	Cohort Studies
Concept	DNA, Mitochondrial
Concept	Cholesterol, LDL
Concept	Hearing Loss, Central
Concept	Adrenal Hyperplasia, Congenital
Concept	Acute Disease
Concept	Biological Products
Concept	Isoleucine
Concept	DNA Copy Number Variations
Concept	Blotting, Western
Concept	Blood Volume
Concept	Injections, Spinal
Concept	Myopathies, Nemaline
Concept	Radiography
Concept	Nephrotic Syndrome
Concept	Cardiomyopathies
Concept	Genetics, Medical
Concept	Heart Defects, Congenital
Concept	Genetic Predisposition to Disease
Concept	Pyrimidines
Concept	Endoribonucleases
Concept	Pathology, Molecular
Concept	Membrane Microdomains
Concept	AMP-Activated Protein Kinases
Concept	Mitosis
Concept	Clinical Protocols
Concept	Infusions, Intravenous
Concept	Parkinsonian Disorders
Concept	Anemia, Hemolytic
Concept	Cysteine Endopeptidases
Concept	Ketoglutaric Acids
Concept	Dystonia
Concept	Homozygote
Concept	Chromosomes, Human, Pair 7
Concept	Mice
Concept	Propionic Acidemia
Concept	Clinical Trials as Topic
Concept	Sodium
Concept	Genetic Variation
Concept	Epilepsy
Concept	Nucleosomes
Concept	Charcot-Marie-Tooth Disease
Concept	Nutritional Physiological Phenomena
Concept	Encephalitis
Concept	Echocardiography
Concept	Gene Expression Regulation, Developmental
Concept	Electroencephalography
Concept	Repressor Proteins
Concept	Haplotypes
Concept	Serum Albumin
Concept	Octamer Transcription Factor-3
Concept	Myasthenic Syndromes, Congenital
Concept	Exons
Concept	Cattle
Concept	Furosemide
Concept	Mutagenesis, Insertional
Concept	Mice, Inbred C57BL
Concept	Dietary Proteins
Concept	COP-Coated Vesicles
Concept	Kartagener Syndrome
Concept	Retrospective Studies
Concept	Gene Expression Regulation
Concept	Psychomotor Agitation
Concept	Computational Biology
Concept	Cholestasis, Intrahepatic
Concept	Laminin
Concept	Mutation
Concept	Neonatal Screening
Concept	Cells, Cultured
Concept	Dwarfism
Concept	Cell Separation
Concept	S-Adenosylhomocysteine
Concept	T-Lymphocytes
Concept	Glomerulosclerosis, Focal Segmental
Concept	Reflex, Stretch
Concept	Crigler-Najjar Syndrome
Concept	Antigens, CD
Concept	Microtubule-Associated Proteins
Concept	Homocysteine
Concept	Dyskeratosis Congenita
Concept	DNA Mutational Analysis
Concept	Bile Acids and Salts
Concept	Linkage Disequilibrium
Concept	Adenine Nucleotide Translocator 1
Concept	Severity of Illness Index
Concept	Attention
Concept	Cell Proliferation
Concept	Pilot Projects
Concept	Hyperlipoproteinemia Type II
Concept	Genetic Diseases, Inborn
Concept	Growth and Development
Concept	Sweetening Agents
Concept	Fibrinogen
Concept	DEAD-box RNA Helicases
Concept	Lymphocytes
Concept	ATP-Dependent Proteases
Concept	Longitudinal Studies
Concept	Active Transport, Cell Nucleus
Concept	Proto-Oncogene Proteins c-myc
Concept	Autoantibodies
Concept	Parents
Concept	Fatal Outcome
Concept	Severe Combined Immunodeficiency
Concept	Catalytic Domain
Concept	Amino Acid Metabolism, Inborn Errors
Concept	Alu Elements
Concept	Positron-Emission Tomography
Concept	Health Care Costs
Concept	Hirschsprung Disease
Concept	Liver Transplantation
Concept	S-Adenosylmethionine
Concept	Respiration, Artificial
Concept	Thymus Gland
Concept	Cystathionine beta-Synthase
Concept	Population Surveillance
Concept	Atherosclerosis
Concept	Molecular Diagnostic Techniques
Concept	Troponin T
Concept	Lymphocyte Activation
Concept	Temporal Lobe
Concept	Diffusion Magnetic Resonance Imaging
Concept	Cerebrovascular Circulation
Concept	Oxidation-Reduction
Concept	Chromosomes, Human, Pair 19
Concept	Tubulin
Concept	Glycosphingolipids
Concept	Serine Proteases
Concept	Maple Syrup Urine Disease
Concept	Genome, Human
Concept	Hearing Loss, Sensorineural
Concept	Histidine
Concept	Genotype
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 20
Concept	Prednisolone
Concept	Chromosomes, Human, Pair 5
Concept	Graft Rejection
Concept	Prevalence
Concept	Case-Control Studies
Concept	Pennsylvania
Concept	Muscular Atrophy, Spinal
Concept	Tight Junctions
Concept	Eye Abnormalities
Concept	Apgar Score
Concept	Reproducibility of Results
Concept	Respiratory Rate
Concept	Sialic Acid Storage Disease
Concept	Nutritional Requirements
Concept	Prospective Studies
Concept	Ether-A-Go-Go Potassium Channels
Concept	Cross-Sectional Studies
Concept	Rats
Concept	Chromosome Mapping
Concept	Epilepsies, Partial
Concept	Image Processing, Computer-Assisted
Concept	Diet
Concept	Apolipoproteins B
Concept	Codon, Nonsense
Concept	Cost of Illness
Concept	Genome-Wide Association Study
Concept	Immunization
Concept	Spinal Muscular Atrophies of Childhood
Concept	Cross-Cultural Comparison
Concept	HLA Antigens
Concept	Embryo, Nonmammalian
Concept	Histocompatibility Testing
Concept	Guanine Nucleotide Exchange Factors
Concept	Tomography, X-Ray Computed
Concept	Cell Line
Concept	G(M3) Ganglioside
Concept	Graft Survival
Concept	Diet, Protein-Restricted
Concept	Oligonucleotide Array Sequence Analysis
Concept	Gene Frequency
Concept	Heterochromatin
Concept	Polymerase Chain Reaction
Concept	Models, Neurological
Concept	N-Acetylgalactosaminyltransferases
Concept	Usher Syndromes
Concept	Corpus Striatum
Concept	Long Interspersed Nucleotide Elements
Concept	Arterioles
Concept	Gene Deletion
Concept	Dopamine Plasma Membrane Transport Proteins
Concept	Risk Assessment
Concept	Genetic Vectors
Concept	Putamen
Concept	Basal Ganglia Diseases
Concept	Mutation, Missense
Concept	Risk
Concept	Gangliosides
Concept	Kernicterus
Concept	Risk Factors
Concept	Bilirubin
Concept	Weight Gain
Concept	Bone Morphogenetic Protein 2
Concept	Craniofacial Abnormalities
Concept	CRADD Signaling Adaptor Protein
Concept	Base Sequence
Concept	Alleles
Concept	Genes, Recessive
Concept	Follow-Up Studies
Concept	Cloning, Molecular
Concept	Autopsy
Concept	Zebrafish
Concept	Diffusion Tensor Imaging
Concept	Amyloid beta-Peptides
Concept	Siblings
Concept	3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Concept	Immunohistochemistry
Concept	Cleft Palate
Concept	Comorbidity
Concept	Frameshift Mutation
Concept	Cell Line, Tumor
Concept	Chromosomes, Human, Pair 2
Concept	Molecular Sequence Data
Concept	Immunoblotting
Concept	Gene Dosage
Concept	Stillbirth
Concept	Glucose
Concept	Deafness
Concept	Hair Cells, Auditory
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	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Academic Article	Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
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	Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Academic Article	Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Academic Article	A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
Academic Article	Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
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	Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.
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	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
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	Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Academic Article	Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
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	Glutaric aciduria type 1: a clinician's view of progress.
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	Genetics, medicine, and the Plain people.
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	Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia.
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	Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
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	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	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	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	Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
Academic Article	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
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	Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
Academic Article	Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
Academic Article	Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
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 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	De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Academic Article	Liver transplant for inherited metabolic disease among siblings.
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	AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
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	Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Academic Article	Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Academic Article	APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Academic Article	Gangliosides and hearing.
Concept	Erlotinib Hydrochloride
Concept	Loss of Function Mutation
Concept	HEK293 Cells
Concept	Haploinsufficiency
Concept	High-Throughput Nucleotide Sequencing
Concept	Carotid Intima-Media Thickness
Concept	Exome
Concept	Telomere Homeostasis
Concept	Stereocilia
Concept	End Stage Liver Disease
Concept	Megalencephaly
Concept	Cognitive Dysfunction
Concept	Agenesis of Corpus Callosum
Concept	Primary Cell Culture
Concept	RNA, Long Noncoding
Concept	Pulse Wave Analysis
Concept	Apc7 Subunit, Anaphase-Promoting Complex-Cyclosome
Concept	White Matter
Concept	Gray Matter
Academic Article	Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Academic Article	Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Academic Article	Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Academic Article	Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
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.
Academic Article	Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
Academic Article	Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.
Academic Article	Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Academic Article	WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Academic Article	Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Academic Article	Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.
Academic Article	BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

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