scholarly journals The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE

2012 ◽  
pp. 7-10
Author(s):  
Waseem Fathalla ◽  
Elamin Ahmed
Keyword(s):  
Pompe Disease ◽  
Infantile Pompe Disease

scholarly journals Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate

2017 ◽  
Vol 13 (2) ◽  
pp. 172-174 ◽  
Author(s):  
S. Koirala ◽  
A. Poudel ◽  
R. Basnet ◽  
K. Subedi
Keyword(s):  
Respiratory Rate ◽  
Pompe Disease ◽  
Clinical Findings ◽  
Diagnostic Challenge ◽  
Floppy Infant ◽  
History Of ◽  
Infantile Pompe Disease ◽  
High Index Of Suspicion ◽  
To Receive ◽  
Remote Part

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and cough in the recent earthquake disaster camp at remote part of Sindhupalchowk, Nepal. He was being treated as a case of pneumonia.Pompe disease can be diagnosed clinically by taking detailed history and correlating the clinical findings during the presentation with other symptoms. In our case the normal respiratory rate, reduced Spo2 and presence of crackles dominated the hypotonia and was mistreated as pneumonia. High index of suspicion is necessary in diagnosing Pompe disease.

Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease

2015 ◽  
Vol 114 (2) ◽  
pp. S61
Author(s):  
Zoheb Kazi ◽  
Katie Berrier ◽  
Cheng Lu ◽  
Deeksha Bali ◽  
J. Will Thompson ◽  
...  
Keyword(s):  
Immune Response ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

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

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort

2020 ◽  
Vol 129 (2) ◽  
pp. S48
Author(s):  
Ankit K. Desai ◽  
Cindy Li ◽  
Amy S. Rosenberg ◽  
Priya S. Kishnani
Keyword(s):  
Pompe Disease ◽  
Large Cohort ◽  
Safety And Efficacy ◽  
Short Course ◽  
Infantile Pompe Disease

scholarly journals Infantile Pompe Disease: Atypical Variant

2015 ◽  
Vol 2 (s1) ◽  
pp. S28-S28
Author(s):  
Thaís Rodrigues ◽  
Carlo D. Marrone
Keyword(s):  
Pompe Disease ◽  
Infantile Pompe Disease ◽  
Atypical Variant

scholarly journals Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age

2013 ◽  
Vol 14 (S2) ◽  
Author(s):  
C van Gelder ◽  
M Kroos ◽  
L Özkan ◽  
I Plug ◽  
A Reuser ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Antibody Formation ◽  
Enzyme Therapy ◽  
Patient Age ◽  
Patient Âgé ◽  
Infantile Pompe Disease

Characterization of differential tissue GAA content and CI-M6PR/IGF2R expression using autopsy material obtained from 2 patients with CRIM-negative infantile Pompe disease treated with ERT

2013 ◽  
Vol 108 (2) ◽  
pp. S77-S78
Author(s):  
Sean Prater ◽  
Suhrad Banugaria ◽  
Jian Dai ◽  
Deeksha Bali ◽  
Alan Proia ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Autopsy Material ◽  
Infantile Pompe Disease ◽  
Differential Tissue

scholarly journals Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S20
Author(s):  
Suhrad Banugaria ◽  
Sean Prater ◽  
Deeksha Bali ◽  
Catherine Rehder ◽  
Amy Rosenberg ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Immune Tolerance ◽  
Pompe Disease ◽  
Tolerance Induction ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Immune Tolerance Induction ◽  
Infantile Pompe Disease

Quantitative evaluation of white matter hyperintensities in the central nervous system in infantile Pompe disease

2019 ◽  
Vol 126 (2) ◽  
pp. S87
Author(s):  
Aditi Korlimarla ◽  
Ela Stefanescu ◽  
Stephanie Austin ◽  
Steven Chen ◽  
James M. Provenzale ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
White Matter ◽  
Quantitative Evaluation ◽  
Pompe Disease ◽  
White Matter Hyperintensities ◽  
The Central Nervous System ◽  
Infantile Pompe Disease

Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience

2019 ◽  
Vol 126 (2) ◽  
pp. S48
Author(s):  
Ankit K. Desai ◽  
Zoheb B. Kazi ◽  
Deeksha S. Bali ◽  
Catherine W. Rehder ◽  
Susan Richards ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Immune Modulation ◽  
Clinical Course ◽  
Years Of Experience ◽  
Infantile Pompe Disease
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