Stephanie M Dearmey

发表

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

R. Kim, P. Barker, Jennifer S. Li, 2010, Molecular genetics and metabolism.

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

Jeffrey W. Cooney, P. Kishnani, R. Alcalay, 2018, Molecular genetics and metabolism reports.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

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

M. ElMallah, K. Zimmerman, P. Kishnani, 2020, Genetics in Medicine.

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

M. ElMallah, R. Kravitz, P. Kishnani, 2020, Pediatric pulmonology.

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

J. Charrow, C. Rehder, P. Chakraborty, 2013, PloS one.

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

D. Bali, D. Koeberl, P. Kishnani, 2008, Molecular genetics and metabolism.

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

P. Kishnani, Heidi Cope, Stephanie M Dearmey, 2017, Molecular genetics and metabolism.

Polysomnographic findings in infantile Pompe disease

Sujay M Kansagra, R. Kravitz, P. Kishnani, 2013, American journal of medical genetics. Part A.

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

P. Kishnani, J. Mackey, R. Conway, 2011, Molecular genetics and metabolism.

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

A. Ross, C. Morgan, Jennifer S. Li, 2007, Paediatric anaesthesia.

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

P. Kishnani, Christine I. Ha, Heidi Cope, 2017, Molecular genetics and metabolism reports.

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

E. Cirulli, C. Rehder, D. Bali, 2017, Molecular genetics and metabolism.

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

P. Kishnani, M. T. Bhatti, T. Cummings, 2019, Cornea.

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

C. Phornphutkul, P. Kishnani, L. Case, 2012, Genetics in Medicine.

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

R. Kim, P. Barker, Jennifer S. Li, 2010 .

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

R. J. Ramamurthi, S. Y. Kim, H. Y. Wang, 2017, The New England journal of medicine.

Phase I Study of Liver Depot Gene Therapy in Late-onset Pompe Disease.

D. Bali, Tracy Spears, J. Chichester, 2023, Molecular therapy : the journal of the American Society of Gene Therapy.

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

J. Clancy, J. Charrow, C. Tifft, 2015, Neuromuscular Disorders.

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

D. Koeberl, P. Kishnani, S. Austin, 2016, American journal of medical genetics. Part A.

The clinical phenotype of Long-term infantile Pompe disease survivors

P. Kishnani, L. Case, J. Mackey, 2011 .

Pediatric Pulmonology

R. Kravitz, Stephanie M Dearmey, Ankit K. Desai, 2020 .

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

Q. K. Tan, P. Kishnani, S. Cheah, 2013, Molecular genetics and metabolism.