-
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 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..
-
2
-
-
53449093327
-
Lysosomal storage disease 2
-
Van der Ploeg A.T., Reuser A.J. Lysosomal storage disease 2. Lancet 2008, 372:1342-1353.
-
(2008)
Lancet
, vol.372
, pp. 1342-1353
-
-
Van der Ploeg, A.T.1
Reuser, A.J.2
-
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
-
-
33746885426
-
Seven cases of Pompe disease from Greece
-
Kroos M.A., Manta P., Mavridou I., Muntoni F., Halley D., Van der Helm D., Zaifeiriou D., Van der Ploeg A., Reuser A., Michelakakis H. Seven cases of Pompe disease from Greece. J. Inherit. Metab. Dis. 2006, 29:556-563.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 556-563
-
-
Kroos, M.A.1
Manta, P.2
Mavridou, I.3
Muntoni, F.4
Halley, D.5
Van der Helm, D.6
Zaifeiriou, D.7
Van der Ploeg, A.8
Reuser, A.9
Michelakakis, H.10
-
5
-
-
34548432590
-
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
-
Müller-Felber W., Horvath R., Gempel K., Podskarbi T., Shin Y., Pongratz D., Walter M.C., Baethmann M., Schlotter-Weigel B., Lochmüller H., Schoser B. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul. Disord. 2007, 17:698-706.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 698-706
-
-
Müller-Felber, W.1
Horvath, R.2
Gempel, K.3
Podskarbi, T.4
Shin, Y.5
Pongratz, D.6
Walter, M.C.7
Baethmann, M.8
Schlotter-Weigel, B.9
Lochmüller, H.10
Schoser, B.11
-
6
-
-
33644994280
-
Course of disability and respiratory function in untreated late-onset Pompe disease
-
Hagemans M.L., Hop W.J., Van Doorn P.A., Reuser A.J., Van der Ploeg A.T. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006, 66:581-583.
-
(2006)
Neurology
, vol.66
, pp. 581-583
-
-
Hagemans, M.L.1
Hop, W.J.2
Van Doorn, P.A.3
Reuser, A.J.4
Van der Ploeg, A.T.5
-
7
-
-
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
-
8
-
-
73649133312
-
Resistance exercise and nutrition to counteract muscle wasting
-
Little J.P., Phillips S.M. Resistance exercise and nutrition to counteract muscle wasting. Appl. Physiol. Nutr. Metab. 2009, 34:817-828.
-
(2009)
Appl. Physiol. Nutr. Metab.
, vol.34
, pp. 817-828
-
-
Little, J.P.1
Phillips, S.M.2
-
9
-
-
33845992187
-
Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy
-
Slonim A.E., Bulone L., Goldberg T., Mikekes 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
Mikekes, J.4
Slonim, E.5
Galanko, J.6
Martiniuk, F.7
-
10
-
-
69549111144
-
The six minute walk test: a useful metric for the cardiopulmonary patient
-
Rasebaka A., Lee A.L., Naughton M.T., Williams T.J., Holland A.E. The six minute walk test: a useful metric for the cardiopulmonary patient. Intern. Med. J. 2009, 39:495-501.
-
(2009)
Intern. Med. J.
, vol.39
, pp. 495-501
-
-
Rasebaka, A.1
Lee, A.L.2
Naughton, M.T.3
Williams, T.J.4
Holland, A.E.5
-
11
-
-
0037221808
-
Delayed onset muscle soreness: treatment strategies and performance factors
-
Cheung K., Hume P., Maxwell L. Delayed onset muscle soreness: treatment strategies and performance factors. Sports Med. 2003, 33:145-164.
-
(2003)
Sports Med.
, vol.33
, pp. 145-164
-
-
Cheung, K.1
Hume, P.2
Maxwell, L.3
-
12
-
-
0024469570
-
Changes in force, cross sectional area and neural activation during strength training and detraining of the human quadriceps
-
Narici M.V., Roi G.S., Landoni L., Minetti A.E., Cerretelli P. Changes in force, cross sectional area and neural activation during strength training and detraining of the human quadriceps. Eur. J. Appl. Physiol. 1989, 59:310-319.
-
(1989)
Eur. J. Appl. Physiol.
, vol.59
, pp. 310-319
-
-
Narici, M.V.1
Roi, G.S.2
Landoni, L.3
Minetti, A.E.4
Cerretelli, P.5
-
13
-
-
0031529541
-
Effects of single vs. multiple sets of weight training: impact of volume intensity and variation
-
Kraemer W.J., Stone M.H., O'Bryant H.S., Conley M.S., Johnson R.L., Nieman D.C., Honeycutt D.R., Hoke T.P. Effects of single vs. multiple sets of weight training: impact of volume intensity and variation. J. Strength Cond. Res. 1997, 11:143-147.
-
(1997)
J. Strength Cond. Res.
, vol.11
, pp. 143-147
-
-
Kraemer, W.J.1
Stone, M.H.2
O'Bryant, H.S.3
Conley, M.S.4
Johnson, R.L.5
Nieman, D.C.6
Honeycutt, D.R.7
Hoke, T.P.8
-
14
-
-
53549095724
-
Clinical features of late onset Pompe disease: a prospective cohort study
-
Wokke J.H., Escolar D.M., Pestronk A., Jaffe K.M., Carter G.T., van den Berg L.H., Florence J.M., Mayhew J., Skrinar A., Corzo D., Laforet P. Clinical features of late onset Pompe disease: a prospective cohort study. Muscle Nerve 2008, 38:1236-1245.
-
(2008)
Muscle Nerve
, vol.38
, pp. 1236-1245
-
-
Wokke, J.H.1
Escolar, D.M.2
Pestronk, A.3
Jaffe, K.M.4
Carter, G.T.5
van den Berg, L.H.6
Florence, J.M.7
Mayhew, J.8
Skrinar, A.9
Corzo, D.10
Laforet, P.11
-
15
-
-
77954659727
-
The importance of nutritional status in the prognosis of late onset Pompe disease
-
Papadimas G., Terzis G., Papadopoulos C., Spengos K., Manta P. The importance of nutritional status in the prognosis of late onset Pompe disease. Mol. Genet. Metab. 2010, 100:389.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 389
-
-
Papadimas, G.1
Terzis, G.2
Papadopoulos, C.3
Spengos, K.4
Manta, P.5
-
17
-
-
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
-
18
-
-
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. 2010, 10:25-34.
-
(2010)
J. Musculoskelet. Neuronal Interact.
, vol.10
, pp. 25-34
-
-
Gross, T.S.1
Poliachik, S.L.2
Prasad, J.3
Bain, S.D.4
-
19
-
-
0023727130
-
Weight-bearing exercise training and lumbar bone mineral content in post menopausal female
-
Dalsky G.P., Stocke K.S., Ehasani A.A., Slatpolsky E., Lee W.C., Birge S. Weight-bearing exercise training and lumbar bone mineral content in post menopausal female. Ann. Intern. Med. 1988, 108:824-828.
-
(1988)
Ann. Intern. Med.
, vol.108
, pp. 824-828
-
-
Dalsky, G.P.1
Stocke, K.S.2
Ehasani, A.A.3
Slatpolsky, E.4
Lee, W.C.5
Birge, S.6
-
21
-
-
32944475832
-
Factors influencing variation in basal metabolic rate include fat-free mass, fat mass, age, and circulating thyroxine but not sex, circulating leptin, or triiodothyronine
-
Johnstone A.M., Murison S.D., Duncan J.S., Rance K.A., Speakman J.R. Factors influencing variation in basal metabolic rate include fat-free mass, fat mass, age, and circulating thyroxine but not sex, circulating leptin, or triiodothyronine. Am. J. Clin. Nutr. 2005, 82:941-948.
-
(2005)
Am. J. Clin. Nutr.
, vol.82
, pp. 941-948
-
-
Johnstone, A.M.1
Murison, S.D.2
Duncan, J.S.3
Rance, K.A.4
Speakman, J.R.5
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