List of works - Priya S Kishnani

53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease

scientific article published in 2008

A randomized study of alglucosidase alfa in late-onset Pompe's disease

scientific article

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study

scientific article published on 20 December 2018

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

scientific article published on 17 January 2014

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

scientific article published on 27 December 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.

scientific article

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

scientific article published on 13 July 2011

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

scientific article published on 17 January 2012

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study

scientific article

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening

scientific article published on 15 February 2015

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

scientific article

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

scientific article

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

scientific article

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth

scientific article

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

scientific article published on 27 December 2017

Characterization of a canine model of glycogen storage disease type IIIa

scientific article

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

scientific article

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

scientific article

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

scientific article published on 14 May 2019

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

scholarly article by Kunal C Potnis published in December 2018

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

scientific article published on January 2010

Death from supine asphyxia in late onset pompe disease: Two patients

scientific article published on 04 May 2016

Detection of iron deficiency in children with Down syndrome

scientific article published on 16 August 2019

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

scientific article

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

scientific article published on May 2006

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses

scientific article

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

scientific article published on 21 March 2017

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease

scientific article

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

scientific article

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

scientific article published on July 2010

Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa

scientific article published on 01 July 2019

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

scientific article

Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher disease

scientific article published on 11 February 2016

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy

scientific article

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

scientific article published on 23 December 2017

Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]

scholarly article published in Molecular Genetics and Metabolism

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease

scientific article

Fractures in children with Pompe disease: a potential long-term complication

scientific article published on 7 March 2007

Glycogen storage disease type III diagnosis and management guidelines

scientific article

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

scientific article published on 9 November 2006

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.

scientific article published on 09 August 2017

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

scientific article published on 06 January 2020

How common is misdiagnosis in late-onset Pompe disease?

scientific article published on 01 February 2012

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

scientific article published on 16 October 2013

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers

scientific article published in September 2015

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

scientific article published in January 2015

Immunomodulatory gene therapy in lysosomal storage disorders

scientific article

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease

scientific article

Impact of time from diagnosis to treatment on lung function among patients with late-onset Pompe disease: Data from the Pompe registry

scholarly article

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

scientific article published on 18 October 2008

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

scientific article published on 02 July 2019

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

scientific article

Longitudinal polysomnographic findings in infantile Pompe disease

scientific article published on 23 February 2015

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention

scientific article

MRI assessment of left ventricular structure and function in children with infantile Pompe disease

Menorrhagia in patients with type I glycogen storage disease

scientific article

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

scientific article

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease

scientific article

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy

scientific article published on 20 August 2014

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

scientific article published on 17 September 2012

PRKAG2 mutations presenting in infancy

scientific article published on 11 August 2017

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells

scientific article published on 28 January 2012

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

scientific article published on 8 September 2017

Polysomnographic findings in infantile Pompe disease.

scientific article

Pompe disease diagnosis and management guideline.

scientific article

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

scientific article

Pompe disease: Design, methodology, and early findings from the Pompe Registry

article by Barry J. Byrne et al published May 2011 in Molecular Genetics and Metabolism

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

scientific article published on 13 March 2015

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

scientific article published on 17 January 2012

Prevalence of iron deficiency in children with Down syndrome

scientific article

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

scientific article published on 03 January 2020

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

scientific article published on 7 May 2003

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

scientific article

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

scientific article published on 10 June 2020

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining

scientific article

Response to Heiner-Fokkema et al

scientific article published on 13 July 2020

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

scientific article published on 19 December 2014

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study

scientific article

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up

scientific article

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

scientific article

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

scientific article

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

scientific article

Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

scientific article

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver

scientific journal article

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

scientific article published on January 2012

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

scientific article published in January 2015

The Pompe Registry: 10years of data

The Pompe Registry: Centralized Data Collection to Track the Natural Course of Pompe Disease

The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.

scientific article

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings

scientific article published on 13 May 2011

The emerging phenotype of long-term survivors with infantile Pompe disease.

scientific article

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

scientific article

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry

scientific article

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

scientific article published on 23 March 2017

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

scientific article published on 31 May 2017

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

scientific article

Urea cycle disorders: clinical presentation outside the newborn period.

scientific article

Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy ⬇️

scientific article published on July 23, 2010

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

scientific article published on 19 December 2013

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease

scientific article

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

scientific article published on 11 November 2011

List of works by Priya S Kishnani

53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease

A randomized study of alglucosidase alfa in late-onset Pompe's disease

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study

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

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

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

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening

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

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Characterization of a canine model of glycogen storage disease type IIIa

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

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

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

Death from supine asphyxia in late onset pompe disease: Two patients

Detection of iron deficiency in children with Down syndrome

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

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

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

Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness

Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher disease

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease

Fractures in children with Pompe disease: a potential long-term complication

Glycogen storage disease type III diagnosis and management guidelines

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

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

How common is misdiagnosis in late-onset Pompe disease?

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

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers

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

Immunomodulatory gene therapy in lysosomal storage disorders

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease

Impact of time from diagnosis to treatment on lung function among patients with late-onset Pompe disease: Data from the Pompe registry

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

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

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

Longitudinal polysomnographic findings in infantile Pompe disease

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention

MRI assessment of left ventricular structure and function in children with infantile Pompe disease

Menorrhagia in patients with type I glycogen storage disease

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease

Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

PRKAG2 mutations presenting in infancy

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Polysomnographic findings in infantile Pompe disease.

Pompe disease diagnosis and management guideline.

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

Pompe disease: Design, methodology, and early findings from the Pompe Registry

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

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

Prevalence of iron deficiency in children with Down syndrome

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

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

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining

Response to Heiner-Fokkema et al

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up