Lista de obras -

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency ⬇️

artículo científico publicado el 1 de noviembre de 2003

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

artículo científico publicado en 2011

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

artículo científico publicado en 2013

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

artículo científico publicado en 2014

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease ⬇️

artículo científico publicado el 19 de septiembre de 2012

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

artículo científico publicado en 2012

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

artículo científico publicado en 2013

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques ⬇️

artículo científico publicado el 17 de enero de 2012

Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease

artículo científico publicado en 2014

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

artículo científico publicado en 2015

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

artículo científico publicado en 2015

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

artículo científico publicado en 2017

Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".

artículo científico publicado en 2015

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

artículo científico publicado en 2010

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

artículo científico publicado en 2014

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

artículo científico publicado en 2014

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

artículo científico publicado en 2014

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review ⬇️

artículo científico publicado el 2 de febrero de 2012

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns

artículo científico publicado en 2011

Digital microfluidics: a future technology in the newborn screening laboratory?

artículo científico publicado en 2010

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time

artículo científico publicado en 2010

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle ⬇️

artículo científico publicado el 13 de febrero de 2011

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

artículo científico publicado en 2020

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

artículo científico publicado en 2002

Glycogen storage disease type III diagnosis and management guidelines

artículo científico publicado en 2010

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

artículo científico publicado en 2006

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

artículo científico publicado en 2010

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

artículo científico publicado en 2013

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

artículo científico publicado en 2015

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

scientific article published on 18 October 2008

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

artículo científico publicado en 2009

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs

artículo científico publicado en 2017

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform ⬇️

artículo científico publicado el 7 de mayo de 2013

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns ⬇️

artículo científico publicado el 11 de septiembre de 2013

PRKAG2 mutations presenting in infancy

artículo científico publicado en 2017

Pompe disease diagnosis and management guideline.

artículo científico publicado en 2006

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience ⬇️

artículo científico publicado el 17 de enero de 2012

Prenatal diagnosis in glycogen storage diseases

artículo científico publicado en 2002

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics ⬇️

artículo científico publicado el 24 de marzo de 2013

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

artículo científico publicado en 2003

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

artículo científico publicado en 2017

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory

artículo científico publicado en 2009

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

artículo científico publicado en 2017

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

artículo científico publicado en 2016

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

artículo científico publicado en 2012

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening

scientific article published on 24 May 2019

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

artículo científico

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

artículo científico publicado en 2013

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease ⬇️

artículo científico publicado el 11 de noviembre de 2011

Lista de obras de

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency ⬇️

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease ⬇️

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques ⬇️

Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review ⬇️

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns

Digital microfluidics: a future technology in the newborn screening laboratory?

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle ⬇️

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

Glycogen storage disease type III diagnosis and management guidelines

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform ⬇️

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns ⬇️

PRKAG2 mutations presenting in infancy

Pompe disease diagnosis and management guideline.

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience ⬇️

Prenatal diagnosis in glycogen storage diseases

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics ⬇️

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease ⬇️