| Item Type | Name |
|
Concept
|
Child, Preschool
|
|
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
|
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
|
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
|
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
|
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
|
|
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
|
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
|
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
|
Genomic diagnostics within a medically underserved population: efficacy and implications.
|
|
Academic Article
|
Recessive GM3 synthase deficiency: Natural history, biochemistry, 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
|
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
|
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
|