Lista de obras - Hilary Vallance - Dominio Público Uruguay

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

artículo científico publicado en 2005

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

artículo científico publicado en 2004

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

artículo científico publicado en 2003

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

artículo científico publicado en 2006

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations

scholarly article by Mehul A. Sharma published in August 2018

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

artículo científico publicado en 2016

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

artículo científico publicado en 2012

An improved method for quantification of very long chain fatty acids in plasma

artículo científico publicado en 1994

Are patients with homocystinuria being missed?

artículo científico publicado en 1995

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Biochemical approach to the investigation of pediatric mitochondrial disease

artículo científico publicado en 2004

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

scientific article published on 01 March 2000

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

artículo científico publicado en 2010

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

artículo científico

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

artículo científico publicado en 2004

Carrier testing for autosomal-recessive disorders

artículo científico publicado en 2003

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

artículo científico publicado en 2008

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

artículo científico publicado en 2011

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

artículo científico publicado en 2005

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

artículo científico publicado en 1997

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine

article

Early amniocentesis for biochemical genetic prenatal diagnosis

scientific article published in The Lancet

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

article

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

artículo científico publicado en 2010

Identification of 6 new mutations in the iduronate sulfatase gene

article

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online

artículo científico publicado en 1999

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

scientific article published on 16 October 2008

Infantile cardioencephalopathy due to a COX15 gene defect: report and review

artículo científico publicado en 2011

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?

artículo científico publicado en 2014

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

artículo científico publicado en 2011

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

artículo científico publicado en 2012

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency

artículo científico publicado en 2014

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

artículo científico

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

artículo científico publicado en 2015

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine

scientific article published on 03 May 2018

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes

artículo científico publicado en 1994

Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation

scientific article published in 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results

artículo científico publicado en 2008

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

artículo científico publicado en 2005

Newborn screening by tandem mass spectrometry: ethical and social issues.

artículo científico publicado en 2007

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

artículo científico publicado en 2008

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

artículo científico publicado en 2017

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Prediction of obstetrical risk using maternal serum markers and clinical risk factors.

artículo científico publicado en 2013

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

artículo científico publicado en 2017

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

artículo científico publicado en 2015

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

scientific article published in 2014

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

artículo científico publicado en 2016

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

scientific article published on 01 October 2019

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

artículo científico publicado en 2007

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

artículo científico publicado en 2018

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

artículo científico publicado en 2014

The Brugada ECG Pattern in a Neonate

article published in 2005

The Liver Biopsy and the Jaundiced Infant

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

artículo científico publicado en 2018

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

artículo científico publicado en 2009

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

artículo científico publicado en 2013

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

artículo científico publicado en 2016

Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?

artículo científico publicado en 2006

Lista de obras de Hilary Vallance

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

An improved method for quantification of very long chain fatty acids in plasma

Are patients with homocystinuria being missed?

Atypical cerebral palsy: genomics analysis enables precision medicine

Biochemical approach to the investigation of pediatric mitochondrial disease

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Carrier testing for autosomal-recessive disorders

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine

Early amniocentesis for biochemical genetic prenatal diagnosis

Exome Sequencing and the Management of Neurometabolic Disorders.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Identification of 6 new mutations in the iduronate sulfatase gene

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

Infantile cardioencephalopathy due to a COX15 gene defect: report and review

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes

Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Newborn screening by tandem mass spectrometry: ethical and social issues.

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Prediction of obstetrical risk using maternal serum markers and clinical risk factors.

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

The Brugada ECG Pattern in a Neonate

The Liver Biopsy and the Jaundiced Infant

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?