List of works - Stephanie M DeArmey

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 July 13, 2011

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

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

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

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

scientific article published on 01 July 2019

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

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

scientific article published on 23 December 2017

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

scientific article published on 7 March 2007

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

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

scientific article published in January 2015

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

scientific article published on 18 October 2008

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 published on November 29, 2012

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

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

Polysomnographic findings in infantile Pompe disease

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

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

scientific article published on 19 December 2014

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

scientific article

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

scientific article published on May 13, 2011

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

scientific article

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

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

List of works by Stephanie M DeArmey

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 ⬇️

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

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

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

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

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

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

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

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

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

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

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

Polysomnographic findings in infantile Pompe disease

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

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

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

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

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

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

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