Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

2006 ◽  
Vol 80 (3) ◽  
pp. 308-309 ◽  
Author(s):  
Klaske D. Lichtenbelt ◽  
Marian A. Kroos ◽  
Richard J. Sinke ◽  
John J.H. Wokke ◽  
Arnold J.J. Reuser ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Deletion Polymorphism ◽  
Acid Maltase

scholarly journals Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report

2016 ◽  
Vol 43 (4) ◽  
pp. 561-566 ◽  
Author(s):  
Angela Genge ◽  
Natasha Campbell
Keyword(s):  
Genetic Testing ◽  
Muscle Biopsy ◽  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Biopsy Result ◽  
Blood Samples ◽  
Acid Maltase ◽  
Muscle Biopsies ◽  
Blood Spot ◽  
Rule Out

AbstractBackground: Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. Methods: In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Results: Twenty-seven patients provided blood samples for the DBS test. Four patients underwent subsequent genetic testing. Genetic analysis demonstrated that one patient tested positive for Pompe disease and one patient had one copy of a pathogenic variant. Conclusions: In conclusion, the ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening DBS in all patients presenting with a limb-girdle syndrome without a clear diagnosis.

Deletion Polymorphism of DNASE1L1, an X-Linked DNase I-like Gene, in Acid Maltase Deficiency Disorders

2001 ◽  
Vol 70 (2) ◽  
pp. 173-174 ◽  
Author(s):  
Giulia Malferrari ◽  
Massimiliano Mirabella ◽  
Yuri D'Alessandra ◽  
Serenella Servidei ◽  
Ida Biunno
Keyword(s):  
Dnase I ◽  
Acid Maltase Deficiency ◽  
Deletion Polymorphism ◽  
Acid Maltase

scholarly journals Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)

2019 ◽  
Vol 24 (4) ◽  
pp. 270-271
Author(s):  
Eugenio Zapata-Aldana ◽  
Hugh J McMillan ◽  
Tony Rupar ◽  
Catherine Brunel-Guitton ◽  
Pranesh Chakraborty ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Juvenile Onset ◽  
Acid Maltase

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

2008 ◽  
Vol 18 (5) ◽  
pp. 408-409 ◽  
Author(s):  
Nomazulu Dlamini ◽  
Wajanat Jan ◽  
Fiona Norwood ◽  
Jennie Sheehan ◽  
Rachael Spahr ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Mri Findings ◽  
Juvenile Onset ◽  
Muscle Mri ◽  
Acid Maltase

Respiratory improvement by muscle training in adult-onset acid maltase deficiency

1983 ◽  
Vol 6 (3) ◽  
pp. 201-203 ◽  
Author(s):  
Richard J. Martin ◽  
Robert L. Sufit ◽  
Steven P. Ringel ◽  
David W. Hudgel ◽  
Patricia L. Hill
Keyword(s):  
Acid Maltase Deficiency ◽  
Adult Onset ◽  
Muscle Training ◽  
Acid Maltase

Adult onset acid maltase deficiency

1985 ◽  
Vol 68 (1) ◽  
pp. 61-74 ◽  
Author(s):  
M. Swash ◽  
M.S. Schwartz ◽  
M.C.P. Apps
Keyword(s):  
Acid Maltase Deficiency ◽  
Adult Onset ◽  
Acid Maltase

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

Neurology ◽  
2008 ◽  
Vol 70 (8) ◽  
pp. 617-626 ◽  
Author(s):  
A. C. Nascimbeni ◽  
M. Fanin ◽  
E. Tasca ◽  
C. Angelini
Keyword(s):  
Molecular Pathology ◽  
Acid Maltase Deficiency ◽  
Acid Maltase
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