Lista de obras -

14q32.3 deletion syndrome with autism

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado el 5 de mayo de 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Delineation of the cryptic 1qter deletion phenotype.

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado el 27 de septiembre de 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Lista de obras de

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.