about
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumBlood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.Ethical considerations of population screening for late-onset genetic disease.Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants.Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.Delineation of the cryptic 1qter deletion phenotype.Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary.Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutationsFurther clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly14q32.3 deletion syndrome with autismNext-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum
P50
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P50
description
investigador
@es
researcher
@en
name
J Lawrence Merritt
@en
J Lawrence Merritt
@nl
type
label
J Lawrence Merritt
@en
J Lawrence Merritt
@nl
prefLabel
J Lawrence Merritt
@en
J Lawrence Merritt
@nl
P31
P496
0000-0002-2552-7306