List of works - J Lawrence Merritt

14q32.3 deletion syndrome with autism

scientific article published on 01 February 2005

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

scientific article published on 3 January 2013

Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate ⬇️

scientific article published on 05 May 2011

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).

scientific article

Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.

scientific article published on 20 January 2009

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

scientific article

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

scientific article

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary.

scientific article

Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.

scientific article

Delineation of the cryptic 1qter deletion phenotype.

scientific article published in March 2007

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

scientific article

Ethical considerations of population screening for late-onset genetic disease.

scientific article

Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations

scientific article published on 01 August 2006

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

scientific article published on 01 April 2008

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.

scientific article published on 18 April 2006

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

scientific article published on 23 January 2014

Newborn screening and renal disease: where we have been; where we are now; where we are going ⬇️

scientific article published on September 27, 2011

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

scientific article published on 10 July 2012

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

scientific article published on 18 August 2012

List of works by J Lawrence Merritt

14q32.3 deletion syndrome with autism

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate ⬇️

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).

Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary.

Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.

Delineation of the cryptic 1qter deletion phenotype.

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Ethical considerations of population screening for late-onset genetic disease.

Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

Newborn screening and renal disease: where we have been; where we are now; where we are going ⬇️

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.