-
1
-
-
0035746540
-
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial
-
Amalfitano A., Bengur A.R., Morse R.P., et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001, 3(2):132-138.
-
(2001)
Genet Med
, vol.3
, Issue.2
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
2
-
-
33846033132
-
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
-
Kishnani P.S., Corzo D., Nicolino M., et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68(2):99-109.
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
-
3
-
-
0034729963
-
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
-
Van den Hout H., Reuser A.J., Vulto A.G., et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000, 356(9227):397-398.
-
(2000)
Lancet
, vol.356
, Issue.9227
, pp. 397-398
-
-
Van den Hout, H.1
Reuser, A.J.2
Vulto, A.G.3
-
4
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout J.M., Kamphoven J.H., Winkel L.P., et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004, 113(5):e448-57.
-
(2004)
Pediatrics
, vol.113
, Issue.5
, pp. e448-e457
-
-
Van den Hout, J.M.1
Kamphoven, J.H.2
Winkel, L.P.3
-
5
-
-
84866532475
-
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
-
de Vries J.M., van der Beek N.A., Hop W.C., et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 2012, 7:73.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 73
-
-
de Vries, J.M.1
van der Beek, N.A.2
Hop, W.C.3
-
6
-
-
84875299316
-
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
-
Gungor D., Kruijshaar M.E., Plug I., et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis 2013, 8:49.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 49
-
-
Gungor, D.1
Kruijshaar, M.E.2
Plug, I.3
-
7
-
-
84876476681
-
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review
-
Toscano A., Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 2013, 260(4):951-959.
-
(2013)
J Neurol
, vol.260
, Issue.4
, pp. 951-959
-
-
Toscano, A.1
Schoser, B.2
-
8
-
-
84861306041
-
Clinical guidelines for late-onset Pompe disease
-
Barba-Romero M.A., Barrot E., Bautista-Lorite J., et al. Clinical guidelines for late-onset Pompe disease. Rev Neurol 2012, 54(8):497-507.
-
(2012)
Rev Neurol
, vol.54
, Issue.8
, pp. 497-507
-
-
Barba-Romero, M.A.1
Barrot, E.2
Bautista-Lorite, J.3
-
9
-
-
84897147551
-
Diagnosis and management of Pompe disease
-
Bhengu L., Davidson A., du Toit P., et al. Diagnosis and management of Pompe disease. S Afr Med J 2014, 104(4):273-274.
-
(2014)
S Afr Med J
, vol.104
, Issue.4
, pp. 273-274
-
-
Bhengu, L.1
Davidson, A.2
du Toit, P.3
-
10
-
-
84857066318
-
Consensus treatment recommendations for late-onset Pompe disease
-
Cupler E.J., Berger K.I., Leshner R.T., et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012, 45(3):319-333.
-
(2012)
Muscle Nerve
, vol.45
, Issue.3
, pp. 319-333
-
-
Cupler, E.J.1
Berger, K.I.2
Leshner, R.T.3
-
11
-
-
84901943319
-
Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe
-
Dubrovskya A., Fulgenzib E., Amartinoc H., et al. Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe. Neurol Argent 2014, 6(2):96-113.
-
(2014)
Neurol Argent
, vol.6
, Issue.2
, pp. 96-113
-
-
Dubrovskya, A.1
Fulgenzib, E.2
Amartinoc, H.3
-
12
-
-
84884346036
-
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease
-
Hundsberger T., Rohrbach M., Kern L., Rosler K.M. Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol 2013, 260(9):2279-2285.
-
(2013)
J Neurol
, vol.260
, Issue.9
, pp. 2279-2285
-
-
Hundsberger, T.1
Rohrbach, M.2
Kern, L.3
Rosler, K.M.4
-
13
-
-
70349121326
-
The Brazilian consensus on the management of Pompe disease
-
Llerena J.C., Horovitz D.M., Marie S.K., et al. The Brazilian consensus on the management of Pompe disease. J Pediatr 2009, 155(Suppl. 4):S47-56.
-
(2009)
J Pediatr
, vol.155
, pp. S47-56
-
-
Llerena, J.C.1
Horovitz, D.M.2
Marie, S.K.3
-
14
-
-
84892720807
-
[Diagnosis and therapy of late onset Pompe disease] Diagnose und therapie des late-onset-morbus-Pompe
-
Schuller A., Kornblum C., Deschauer M., et al. [Diagnosis and therapy of late onset Pompe disease] Diagnose und therapie des late-onset-morbus-Pompe. Nervenarzt 2013, 84(12):1467-1472.
-
(2013)
Nervenarzt
, vol.84
, Issue.12
, pp. 1467-1472
-
-
Schuller, A.1
Kornblum, C.2
Deschauer, M.3
-
15
-
-
84937632678
-
Moniteur Belge/Belgisch Staatsblad
-
19-08-2011: Brussels
-
Moniteur Belge/Belgisch Staatsblad. 19-08-2011: Brussels. 47840-47846, 2011.
-
(2011)
, pp. 47840-47846
-
-
-
16
-
-
84859108921
-
-
in preparation
-
Deegan P., Cox T.M., Waldek S., Lachmann R., Ramaswami U., Jessop E. Guidelines for the investigation and management of late onset acid maltase deficiency (type II glycogen storage disease/Pompe disease) 2015, in preparation.
-
(2015)
Guidelines for the investigation and management of late onset acid maltase deficiency (type II glycogen storage disease/Pompe disease)
-
-
Deegan, P.1
Cox, T.M.2
Waldek, S.3
Lachmann, R.4
Ramaswami, U.5
Jessop, E.6
-
17
-
-
0003499342
-
-
Memorandum no. 45. Her Majesty's Stationary Office: London
-
Medical Research Council Aids to examination of the peripheral nervous system 1976, Memorandum no. 45. Her Majesty's Stationary Office: London.
-
(1976)
Aids to examination of the peripheral nervous system
-
-
-
18
-
-
0036644465
-
ATS statement: guidelines for the six-minute walk test
-
ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 2002, 166(1):111-117.
-
(2002)
Am J Respir Crit Care Med
, vol.166
, Issue.1
, pp. 111-117
-
-
-
19
-
-
0037102308
-
ATS/ERS statement on respiratory muscle testing
-
American Thoracic Society/European Respiratory Society ATS/ERS statement on respiratory muscle testing. Am J Respir Crit Care Med 2002, 166(4):518-624.
-
(2002)
Am J Respir Crit Care Med
, vol.166
, Issue.4
, pp. 518-624
-
-
-
20
-
-
85027929715
-
The Rasch-built Pompe-specific activity (R-PAct) scale
-
van der Beek N.A., Hagemans M.L., van der Ploeg A.T., van Doorn P.A., Merkies I.S. The Rasch-built Pompe-specific activity (R-PAct) scale. Neuromuscul Disord 2013, 23(3):256-264.
-
(2013)
Neuromuscul Disord
, vol.23
, Issue.3
, pp. 256-264
-
-
van der Beek, N.A.1
Hagemans, M.L.2
van der Ploeg, A.T.3
van Doorn, P.A.4
Merkies, I.S.5
-
21
-
-
34547653869
-
Fatigue: an important feature of late-onset Pompe disease
-
Hagemans M.L., van Schie S.P., Janssens A.C., et al. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007, 254(7):941-945.
-
(2007)
J Neurol
, vol.254
, Issue.7
, pp. 941-945
-
-
Hagemans, M.L.1
van Schie, S.P.2
Janssens, A.C.3
-
22
-
-
0024420189
-
The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus
-
Krupp L.B., LaRocca N.G., Muir-Nash J., Steinberg A.D. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989, 46(10):1121-1123.
-
(1989)
Arch Neurol
, vol.46
, Issue.10
, pp. 1121-1123
-
-
Krupp, L.B.1
LaRocca, N.G.2
Muir-Nash, J.3
Steinberg, A.D.4
|