Japanese quail and human acid maltase deficiency: A comparative study

1991 ◽  
Vol 13 (4) ◽  
pp. 247-255 ◽  
Author(s):  
Takehisa Fujita ◽  
Ikuya Nonaka ◽  
Hideo Sugita
Keyword(s):  
Comparative Study ◽  
Japanese Quail ◽  
Acid Maltase Deficiency ◽  
Acid Maltase ◽  
Human Acid

Adenovirus-Mediated Transfer of Human Acid Maltase Gene Reduces Glycogen Accumulation in Skeletal Muscle of Japanese Quail with Acid Maltase Deficiency

1998 ◽  
Vol 9 (11) ◽  
pp. 1609-1616 ◽  
Author(s):  
Seiichi Tsujino ◽  
Nanako Kinoshita ◽  
Toshiko Tashiro ◽  
Kumiko Ikeda ◽  
Nobutsune Ichihara ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Japanese Quail ◽  
Acid Maltase Deficiency ◽  
Glycogen Accumulation ◽  
Acid Maltase ◽  
Human Acid

Acid maltase deficiency in the Japanese quail; early morphological event in skeletal muscle

1987 ◽  
Vol 73 (1) ◽  
pp. 32-37 ◽  
Author(s):  
I. Higuchi ◽  
I. Nonaka ◽  
F. Usuki ◽  
S. Ishiura ◽  
H. Sugita
Keyword(s):  
Skeletal Muscle ◽  
Japanese Quail ◽  
Acid Maltase Deficiency ◽  
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.

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
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