Pompe Disease

2018 ◽  
pp. 99-120
Author(s):  
Alexander Peter Murphy ◽  
Volker Straub
Keyword(s):  
Pompe Disease

Unusual presentation of juvenile Pompe disease in infancy with preceding immune thrombocytopenia

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
L Freudenberg ◽  
W Stenzel ◽  
M Laass ◽  
K Pargac ◽  
G Hahn ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Immune Thrombocytopenia ◽  
Unusual Presentation

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

Treating Pompe Disease

2015 ◽  
Vol 082 (01) ◽  
Author(s):  
Julie Bokor ◽  
Houda Darwiche ◽  
Drew Joseph
Keyword(s):  
Pompe Disease

scholarly journals The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Jorge A. Bevilacqua ◽  
Maria del Rosario Guecaimburu Ehuletche ◽  
Abayuba Perna ◽  
Alberto Dubrovsky ◽  
Marcondes C. Franca ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Latin American ◽  
Pompe Disease ◽  
Muscular Weakness ◽  
Next Generation ◽  
American Experience ◽  
Generation Sequencing

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

2021 ◽  
Author(s):  
Ratna Dua Puri ◽  
Nitika Setia ◽  
Vinu N ◽  
Sujatha Jagadeesh ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement

NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)

2021 ◽  
Vol 132 (2) ◽  
pp. S34
Author(s):  
Mazen M. Dimachkie ◽  
Richard J. Barohn ◽  
Barry Byrne ◽  
Ozlem Goker-Alpan ◽  
Priya S. Kishnani ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

DILATIVE VASCULOPATHY AND CEREBRAL HAEMORRHAGE AS A PRESENTATION OF LATE–ONSET POMPE DISEASE

2013 ◽  
Vol 84 (11) ◽  
pp. e2.197-e2 ◽  
Author(s):  
James Lilleker ◽  
Mark Roberts ◽  
Bernard Boothman
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Cerebral Haemorrhage

scholarly journals Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 601
Author(s):  
Kyung-Sun Park
Keyword(s):  
General Population ◽  
Pompe Disease ◽  
Genomic Data ◽  
Japanese Patients ◽  
Population Database ◽  
Genome Database ◽  
Genetic Database ◽  
Pathogenic Variants ◽  
Reference Genome Database ◽  
Real Patients

In this study, two different approaches were applied in the analysis of the GAA gene. One was analyzed based on patients with Pompe disease, and the other was analyzed based on GAA genomic data from unaffected carriers in a general population genetic database. For this, GAA variants in Korean and Japanese patients reported in previous studies and in patients reported in the Pompe disease GAA variant database were analyzed as a model. In addition, GAA variants in the Korean Reference Genome Database (KRGDB), the Japanese Multi Omics Reference Panel (jMorp), and the Genome Aggregation Database (gnomAD) were analyzed. Overall, approximately 50% of the pathogenic or likely pathogenic variants (PLPVs) found in unaffected carriers were also found in real patients with Pompe disease (Koreans, 57.1%; Japanese, 46.2%). In addition, there was a moderate positive correlation (Spearman’s correlation coefficient of 0.45–0.69) between the proportion of certain PLPVs in patients and the minor allele frequency of their variants in a general population database. Based on the analysis of general population databases, the total carrier frequency for Pompe disease in Koreans and Japanese was estimated to be 1.7% and 0.7%, respectively, and the predicted genetic prevalence was 1:13,657 and 1:78,013, respectively.

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