Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

2009 ◽  
Vol 40 (1) ◽  
pp. 122-125 ◽  
Author(s):  
A. Pichiecchio ◽  
G.U. Poloni ◽  
S. Ravaglia ◽  
M. Ponzio ◽  
G. Germani ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Adult Onset ◽  
Muscle Mri ◽  
Enzyme Replacement ◽  
Glycogenosis Ii

P3.53 Quantitative muscle MRI findings in three patients with adult-onset Pompe disease after a 24-month enzyme replacement therapy

2011 ◽  
Vol 21 (9-10) ◽  
pp. 698
Author(s):  
E. Salort-Campana ◽  
Y. Le Fur ◽  
S. Attarian ◽  
J.P. Mattéi ◽  
P.J. Cozzone ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Adult Onset ◽  
Mri Findings ◽  
Muscle Mri ◽  
Enzyme Replacement

scholarly journals ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA

2019 ◽  
Vol 5 (6) ◽  
pp. e344-e348
Author(s):  
Angela L. Magdaleno ◽  
Sonum Singh ◽  
Sandhya Venkataraman ◽  
Gretchen A. Perilli ◽  
Ya-Yu Lee
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Laboratory Data ◽  
Whole Body ◽  
Adult Onset ◽  
Enzyme Replacement ◽  
Asfotase Alfa ◽  
Focal Uptake ◽  
Patient Reported ◽  
Before And After

Objective: To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. Methods: Clinical and laboratory data are presented. Results: This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP) levels and elevated vitamin B6 levels. Treatment with asfotase alfa resolved her chronic bony pain symptoms and quadrupled her daily pedometer step count. Furthermore, whole body scans before and after treatment showed less focal uptake overall, suggesting fracture healing after enzyme replacement therapy. Conclusion: Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.

M.P.5.03 Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT)

2007 ◽  
Vol 17 (9-10) ◽  
pp. 887-888
Author(s):  
A. Repetto ◽  
P. Bini ◽  
S. Ravaglia ◽  
A. Pichiecchio ◽  
A. Costa ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Spectrum ◽  
Type Ii ◽  
Adult Onset ◽  
Onset Type ◽  
Enzyme Replacement ◽  
Type Ii Glycogenosis

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

2008 ◽  
Vol 25 (8) ◽  
pp. 820-829 ◽  
Author(s):  
Sabrina Ravaglia ◽  
Cesare Danesino ◽  
Anna Pichiecchio ◽  
Alessandra Repetto ◽  
Guy Umberto Poloni ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Adult Onset ◽  
Enzyme Replacement

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

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement
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