-
1
-
-
33745589302
-
Pompe disease diagnosis and management guideline
-
Kishnani P.S., Steiner R.D., Bali D., Berger K., Byrne B.J., Case L.E., Crowley J.F., Downs S., Howell R.R., Kravitz R.M., Mackey J., Marsden D., Martins A.M., Millington D.S., Nicolino M., O'Grady G., Patterson MC M.C., Rapoport D.M., Slonim A., Spencer C.T., Tifft C.J., Watson M.S. Pompe disease diagnosis and management guideline. Genet. Med. 2006, 8:267-288.
-
(2006)
Genet. Med.
, vol.8
, pp. 267-288
-
-
Kishnani, P.S.1
Steiner, R.D.2
Bali, D.3
Berger, K.4
Byrne, B.J.5
Case, L.E.6
Crowley, J.F.7
Downs, S.8
Howell, R.R.9
Kravitz, R.M.10
Mackey, J.11
Marsden, D.12
Martins, A.M.13
Millington, D.S.14
Nicolino, M.15
O'Grady, G.16
Patterson, M.C.17
Rapoport, D.M.18
Slonim, A.19
Spencer, C.T.20
Tifft, C.J.21
Watson, M.S.22
more..
-
3
-
-
50349083514
-
Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy
-
Katzin L.W., Amato A.A. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J. Clin. Neuromuscul. Dis. 2008, 9:421-431.
-
(2008)
J. Clin. Neuromuscul. Dis.
, vol.9
, pp. 421-431
-
-
Katzin, L.W.1
Amato, A.A.2
-
4
-
-
60749102886
-
Pompe disease: a neuromuscular disease with respiratory muscle involvement
-
Mellies U., Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir. Med. 2009, 103:477-484.
-
(2009)
Respir. Med.
, vol.103
, pp. 477-484
-
-
Mellies, U.1
Lofaso, F.2
-
5
-
-
33846033132
-
Recombinant human acid (alpha) glucosidase: major clinical benefits in infantile-onset Pompe disease
-
Kishnani P.S., Corzo D., Nicolino M., Byrne B., Mandel H., Hwu W.L., Leslie N., Levine J., Spencer C., McDonald M., Li J., Dumontier J., Halberthal M., Chien Y.H., Hopkin R., Vijayaraghavan S., Gruskin D., Bartholomew D., van der Ploeg A., Clancy J.P., Parini R., Morin G., Beck M., de la Gastine G.S., Jokic M., Thurberg B., Richards S., Bali D., Davison M., Worden M.A., Chen Y.T., Wraith J.E. Recombinant human acid (alpha) glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68:99-109.
-
(2007)
Neurology
, vol.68
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
Byrne, B.4
Mandel, H.5
Hwu, W.L.6
Leslie, N.7
Levine, J.8
Spencer, C.9
McDonald, M.10
Li, J.11
Dumontier, J.12
Halberthal, M.13
Chien, Y.H.14
Hopkin, R.15
Vijayaraghavan, S.16
Gruskin, D.17
Bartholomew, D.18
van der Ploeg, A.19
Clancy, J.P.20
Parini, R.21
Morin, G.22
Beck, M.23
de la Gastine, G.S.24
Jokic, M.25
Thurberg, B.26
Richards, S.27
Bali, D.28
Davison, M.29
Worden, M.A.30
Chen, Y.T.31
Wraith, J.E.32
more..
-
6
-
-
58349090094
-
Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults
-
Merk T., Wibmer T., Schumann C., Krüger S. Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults. Eur. J. Neurol. 2009, 16:274-277.
-
(2009)
Eur. J. Neurol.
, vol.16
, pp. 274-277
-
-
Merk, T.1
Wibmer, T.2
Schumann, C.3
Krüger, S.4
-
7
-
-
77953831502
-
Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glucogenosis
-
Ravaglia S., Danesino C., Moglia A., Costa A., Cena H., Maccarini L., Carlucci A., Pichiecchio A., Bini P., De Filippi P., Rossi M. Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glucogenosis. Eur. J. Neurol. 2010, 17:957-962.
-
(2010)
Eur. J. Neurol.
, vol.17
, pp. 957-962
-
-
Ravaglia, S.1
Danesino, C.2
Moglia, A.3
Costa, A.4
Cena, H.5
Maccarini, L.6
Carlucci, A.7
Pichiecchio, A.8
Bini, P.9
De Filippi, P.10
Rossi, M.11
-
8
-
-
34147184428
-
Fractures in children with Pompe disease: a potential long-term complication
-
Case L.E., Hanna R., Frush D.P., Krishnamurthy V., DeArmey S., Mackey J., Boney A., Morgan C., Corzo D., Bouchard S., Weber T.J., Chen Y.T., Kishnani PS P.S. Fractures in children with Pompe disease: a potential long-term complication. Pediatr. Radiol. 2007, 37:437-445.
-
(2007)
Pediatr. Radiol.
, vol.37
, pp. 437-445
-
-
Case, L.E.1
Hanna, R.2
Frush, D.P.3
Krishnamurthy, V.4
DeArmey, S.5
Mackey, J.6
Boney, A.7
Morgan, C.8
Corzo, D.9
Bouchard, S.10
Weber, T.J.11
Chen, Y.T.12
Kishnani, P.S.13
-
9
-
-
0033659105
-
Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciouria, and osteopenia in a patient with glycogenosis type II
-
Oktenli C. Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciouria, and osteopenia in a patient with glycogenosis type II. Am. J. Nephrol. 2000, 20:412-417.
-
(2000)
Am. J. Nephrol.
, vol.20
, pp. 412-417
-
-
Oktenli, C.1
-
10
-
-
77955842384
-
Low bone mass in Pompe disease. Muscular strength as a predictor of bone mineral density
-
van den Berg L.E., Zandbergen A.A., van Capelle C.I., de Vries J.M., Hop W.C., van den Hout J.M., Reuser A.J., Zillikens M.C., van der Ploeg A.T. Low bone mass in Pompe disease. Muscular strength as a predictor of bone mineral density. Bone 2010, 47:643-649.
-
(2010)
Bone
, vol.47
, pp. 643-649
-
-
van den Berg, L.E.1
Zandbergen, A.A.2
van Capelle, C.I.3
de Vries, J.M.4
Hop, W.C.5
van den Hout, J.M.6
Reuser, A.J.7
Zillikens, M.C.8
van der Ploeg, A.T.9
-
11
-
-
33845992187
-
Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy
-
Slonim A.E., Bulone L., Goldberg T., Minikes J., Slonim E., Galanko J., Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 2007, 35:70-77.
-
(2007)
Muscle Nerve
, vol.35
, pp. 70-77
-
-
Slonim, A.E.1
Bulone, L.2
Goldberg, T.3
Minikes, J.4
Slonim, E.5
Galanko, J.6
Martiniuk, F.7
-
12
-
-
0028556527
-
Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. WHO Study Group
-
Kanis J.A. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. WHO Study Group. Osteoporos. Int. 1994, 4:368-381.
-
(1994)
Osteoporos. Int.
, vol.4
, pp. 368-381
-
-
Kanis, J.A.1
-
13
-
-
77649209824
-
The effect of muscle dysfunction on bone mass and morphology
-
Gross T.S., Poliachik S.L., Prasad J., Bain S.D. The effect of muscle dysfunction on bone mass and morphology. J. Musculoskelet. Neuronal Interact. 2001, 10:25-34.
-
(2001)
J. Musculoskelet. Neuronal Interact.
, vol.10
, pp. 25-34
-
-
Gross, T.S.1
Poliachik, S.L.2
Prasad, J.3
Bain, S.D.4
-
14
-
-
33745625409
-
Physical therapy management of Pompe disease
-
Case L.E., Kishnani P.S. Physical therapy management of Pompe disease. Genet. Med. 2006, 8:318-327.
-
(2006)
Genet. Med.
, vol.8
, pp. 318-327
-
-
Case, L.E.1
Kishnani, P.S.2
-
15
-
-
53049109613
-
The relationship between regional body composition and quantitative strength in fascioscapulohumeral muscular dystrophy (FSHD)
-
Skalsky A.J., Abresch R.T., Han J.J., Shin C.S., McDonald C.M. The relationship between regional body composition and quantitative strength in fascioscapulohumeral muscular dystrophy (FSHD). Neuromuscul. Disord. 2008, 18:873-880.
-
(2008)
Neuromuscul. Disord.
, vol.18
, pp. 873-880
-
-
Skalsky, A.J.1
Abresch, R.T.2
Han, J.J.3
Shin, C.S.4
McDonald, C.M.5
-
16
-
-
63849300526
-
-
Kharti I.A., Chaudhry U.S., Seikaly M.G., Browne R.H., Iannaccone S.T. J. Clin. Neuromuscul. Dis. 2008, 10:11-17.
-
(2008)
J. Clin. Neuromuscul. Dis.
, vol.10
, pp. 11-17
-
-
Kharti, I.A.1
Chaudhry, U.S.2
Seikaly, M.G.3
Browne, R.H.4
Iannaccone, S.T.5
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