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One or more keywords matched the following items that are connected to Strauss, Kevin
Item TypeName
Concept Infant, Newborn
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 Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
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 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 Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
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 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 Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.
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 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Academic Article Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
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 Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Academic Article Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Academic Article Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
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.
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  • Infant Newborn