-
1
-
-
33846079722
-
Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype
-
DOI 10.1212/01.wnl.0000252798.25690.76, PII 0000611420070109000008
-
Kroos MA, Pomponio RJ, Hagemans ML, et al: Broad spectrum of Pompe disease in patients with the same c.-32-13t-1 g haplotype. Neurology 2007; 68: 110-115. (Pubitemid 46071893)
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 110-115
-
-
Kroos, M.A.1
Pomponio, R.J.2
Hagemans, M.L.3
Keulemans, J.L.M.4
Phipps, M.5
DeRiso, M.6
Palmer, R.E.7
Ausems, M.G.E.M.8
Van Der Beek, N.A.M.E.9
Van Diggelen, O.P.10
Halley, D.J.J.11
Van Der Ploeg, A.T.12
Reuser, A.J.J.13
-
2
-
-
0036086765
-
Acid α-glucosidase deficiency (glycogenosis type II, pompe disease)
-
Raben N, Plotz P, Byrne BJ: Acid alpha-glucosidase deficiency (glycogenosis type ii, Pompe disease). Curr Mol Med 2002; 2: 145-166. (Pubitemid 34649837)
-
(2002)
Current Molecular Medicine
, vol.2
, Issue.2
, pp. 145-166
-
-
Raben, N.1
Plotz, P.2
Byrne, B.J.3
-
5
-
-
2942570942
-
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
-
Van den Hout JM, Kamphoven JH, Winkel LP, et al: Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004; 113:e448-e457.
-
(2004)
Pediatrics
, vol.113
-
-
Van Den Hout, J.M.1
Kamphoven, J.H.2
Winkel, L.P.3
-
6
-
-
0031695078
-
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease [4]
-
DOI 10.1002/(SICI)1096-8628(19980827)79:1<69::AID-AJMG16>3.0.CO;2-K
-
Martiniuk F, Chen A, Mack A, et al: Carrier frequency for glycogen storage disease type ii in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998; 79: 69-72. (Pubitemid 28402423)
-
(1998)
American Journal of Medical Genetics
, vol.79
, Issue.1
, pp. 69-72
-
-
Martiniuk, F.1
Chen, A.2
Mack, A.3
Arvanitopoulos, E.4
Chen, Y.5
Rom, W.N.6
Codd, W.J.7
Hanna, B.8
Alcabes, P.9
Raben, N.10
Plotz, P.11
-
7
-
-
0032848015
-
Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling
-
DOI 10.1038/sj.ejhg.5200367
-
Ausems MG, Verbiest J, Hermans MP, et al: Frequency of glycogen storage disease type ii in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7: 713-716. (Pubitemid 29424063)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.6
, pp. 713-716
-
-
Ausems, M.G.E.M.1
Verbiest, J.2
Hermans, M.M.P.3
Kroos, M.A.4
Beemer, F.A.5
Wokke, J.H.J.6
Sandkuijl, L.A.7
Reuser, A.J.J.8
Van Der Ploeg, A.T.9
-
9
-
-
0026707817
-
Anorectal incontinence in myotonic dystrophy: A myopathic involvement of pelvic floor muscles
-
Herbaut AG, Nogueira MC, Panzer JM, Zegers de Beyl D: Anorectal incontinence in myotonic dystrophy: a myopathic involvement of pelvic floor muscles. Muscle Nerve 1992; 15: 1210-1211.
-
(1992)
Muscle Nerve
, vol.15
, pp. 1210-1211
-
-
Herbaut, A.G.1
Nogueira, M.C.2
Panzer, J.M.3
Zegers De Beyl, D.4
-
10
-
-
0032990065
-
A comparative study of esophageal and anorectal motility in myotonic dystrophy
-
DOI 10.1023/A:1026603602444
-
Lecointe-Besancon I, Leroy F, Devroede G, et al: A comparative study of esophageal and anorectal motility in myotonic dystrophy. Dig Dis Sci 1999; 44: 1090-1099. (Pubitemid 29297210)
-
(1999)
Digestive Diseases and Sciences
, vol.44
, Issue.6
, pp. 1090-1099
-
-
Lecointe-Besancon, I.1
Leroy, F.2
Devroede, G.3
Chevrollier, M.4
Lebeurier, F.5
Congard, P.6
Arhan, P.7
-
12
-
-
0028913682
-
Micturitional disturbance in myotonic dystrophy
-
Sakakibara R, Hattori T, Tojo M, Yamanishi T, Yasuda K, Hirayama K: Micturitional disturbance in myotonic dystrophy. J Auton Nerv Syst 1995; 52: 17-21.
-
(1995)
J Auton Nerv Syst
, vol.52
, pp. 17-21
-
-
Sakakibara, R.1
Hattori, T.2
Tojo, M.3
Yamanishi, T.4
Yasuda, K.5
Hirayama, K.6
-
13
-
-
0029975679
-
Urinary dysfunction in Duchenne muscular dystrophy
-
DOI 10.1002/(SICI)1097-4598(199607)19:7<819::AID-MUS2>3.0.CO;2-C
-
Caress JB, Kothari MJ, Bauer SB, Shefner JM: Urinary dysfunction in Duchenne muscular dystrophy. Muscle Nerve 1996; 19: 819-822. (Pubitemid 26190639)
-
(1996)
Muscle and Nerve
, vol.19
, Issue.7
, pp. 819-822
-
-
Caress, J.B.1
Kothari, M.J.2
Bauer, S.B.3
Shefner, J.M.4
-
14
-
-
0037383787
-
Bladder dysfunction in Duchenne muscular dystrophy
-
DOI 10.1136/adc.88.4.347
-
MacLeod M, Kelly R, Robb SA, Borzyskowski M: Bladder dysfunction in Duchenne muscular dystrophy. Arch Dis Child 2003; 88: 347-349. (Pubitemid 36398980)
-
(2003)
Archives of Disease in Childhood
, vol.88
, Issue.4
, pp. 347-349
-
-
MacLeod, M.1
Kelly, R.2
Robb, S.A.3
Borzyskowski, M.4
-
15
-
-
65449131271
-
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): Clinical features including sphincter disturbance in a large pedigree
-
Miller TD, Jackson AP, Barresi R, et al: Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. J Neurol Neurosurg Psychiatry 2009; 80: 583-584.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 583-584
-
-
Miller, T.D.1
Jackson, A.P.2
Barresi, R.3
-
16
-
-
81555220919
-
Fecal incontinence: Prevalence, severity, and quality of life data from an outpatient gastroenterology practice
-
Alsheik EH, Coyne T, Hawes SK, et al: Fecal incontinence: prevalence, severity, and quality of life data from an outpatient gastroenterology practice. Gastroenterol Res Pract 2012; 2012: 947694.
-
(2012)
Gastroenterol Res Pract
, vol.2012
, pp. 947694
-
-
Alsheik, E.H.1
Coyne, T.2
Hawes, S.K.3
-
17
-
-
0034711136
-
Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation
-
Laforet P, Nicolino M, Eymard PB, et al: Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000; 55: 1122-1128.
-
(2000)
Neurology
, vol.55
, pp. 1122-1128
-
-
Laforet, P.1
Nicolino, M.2
Eymard, P.B.3
-
18
-
-
0025856864
-
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male
-
Chancellor AM, Warlow CP, Webb JN, Lucas MG, Besley GT, Broadhead DM: Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. J Neurol Neurosurg Psychiatry 1991; 54: 659-660.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 659-660
-
-
Chancellor, A.M.1
Warlow, C.P.2
Webb, J.N.3
Lucas, M.G.4
Besley, G.T.5
Broadhead, D.M.6
-
19
-
-
77957239453
-
Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy A report of three later-onset patients
-
Bernstein DL, Bialer MG, Mehta L, Desnick RJ: Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab 2010; 101: 130-133.
-
(2010)
Mol Genet Metab
, vol.101
, pp. 130-133
-
-
Bernstein, D.L.1
Bialer, M.G.2
Mehta, L.3
Desnick, R.J.4
-
20
-
-
84872650450
-
Adult form type ii glycogen storage disease in a northern Italy population: Phenotype characterization, early diagnosis and prognostic determinants
-
Remiche G, Ronchi D, Lamperti C, et al: Adult form type ii glycogen storage disease in a northern Italy population: phenotype characterization, early diagnosis and prognostic determinants. Neurology 2008; 70:A309.
-
(2008)
Neurology
, vol.70
-
-
Remiche, G.1
Ronchi, D.2
Lamperti, C.3
-
21
-
-
8644273315
-
Late-onset Pompe disease primarily affects quality of life in physical health domains
-
Hagemans ML, Janssens AC, Winkel LP, et al: Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004; 63: 1688-1692. (Pubitemid 39507589)
-
(2004)
Neurology
, vol.63
, Issue.9
, pp. 1688-1692
-
-
Hagemans, M.L.C.1
Janssens, A.C.J.W.2
Winkel, L.P.F.3
Sieradzan, K.A.4
Reuser, A.J.J.5
Van Doorn, P.A.6
Van Der Ploeg, A.T.7
-
22
-
-
67651093963
-
Fecal incontinence in US adults: Epidemiology and risk factors
-
517,e1-e2
-
Whitehead WE, Borrud L, Goode PS, et al: Fecal incontinence in US adults: epidemiology and risk factors. Gastroenterology 2009; 137: 512-517, 517 e1-e2.
-
(2009)
Gastroenterology
, vol.137
, pp. 512-517
-
-
Whitehead, W.E.1
Borrud, L.2
Goode, P.S.3
-
23
-
-
79960186867
-
Prevalence and trends of urinary incontinence in adults in the United States, 2001 to 2008
-
Markland AD, Richter HE, Fwu CW, Eggers P, Kusek JW: Prevalence and trends of urinary incontinence in adults in the United States, 2001 to 2008. J Urol 2011; 186: 589-593.
-
(2011)
J Urol
, vol.186
, pp. 589-593
-
-
Markland, A.D.1
Richter, H.E.2
Fwu, C.W.3
Eggers, P.4
Kusek, J.W.5
-
24
-
-
77950963839
-
A randomized study of alglucosidase alfa in late-onset Pompe's disease
-
van der Ploeg AT, Clemens PR, Corzo D, et al: A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010; 362: 1396-1406.
-
(2010)
N Engl J Med
, vol.362
, pp. 1396-1406
-
-
Van Der Ploeg, A.T.1
Clemens, P.R.2
Corzo, D.3
-
25
-
-
0042907262
-
Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease
-
Shotelersuk V, Shuangshoti S, Chotivitayatarakorn P, et al: Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease. J Med Assoc Thai 2002; 85(suppl 1):S271-S279.
-
(2002)
J Med Assoc Thai
, vol.85
, Issue.SUPPL. 1
-
-
Shotelersuk, V.1
Shuangshoti, S.2
Chotivitayatarakorn, P.3
-
26
-
-
3242668008
-
Infantile-onset glycogen storage disease type ii (Pompe disease): Report of a case with genetic diagnosis and pathological findings
-
Teng YT, Su WJ, Hou JW, Huang SF: Infantile-onset glycogen storage disease type ii (Pompe disease): report of a case with genetic diagnosis and pathological findings. Chang Gung Med J 2004; 27: 379-384.
-
(2004)
Chang Gung Med J
, vol.27
, pp. 379-384
-
-
Teng, Y.T.1
Su, W.J.2
Hou, J.W.3
Huang, S.F.4
-
27
-
-
33751211826
-
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease
-
DOI 10.1038/labinvest.3700484, PII 3700484
-
Thurberg BL, Lynch Maloney C, Vaccaro C, et al: Characterization of pre-and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006; 86: 1208-1220. (Pubitemid 44789911)
-
(2006)
Laboratory Investigation
, vol.86
, Issue.12
, pp. 1208-1220
-
-
Thurberg, B.L.1
Maloney, C.L.2
Vaccaro, C.3
Afonso, K.4
Tsai, A.C.-H.5
Bossen, E.H.6
Kishnani, P.S.7
O'Callaghan, M.8
-
28
-
-
0032834144
-
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
-
DOI 10.1002/(SICI)1096-9896(199911)189:3<416::AID-PATH445>3.0.CO;2- 6
-
Bijvoet AG, Van Hirtum H, Vermey M, et al: Pathological features of glycogen storage disease type ii highlighted in the knockout mouse model. J Pathol 1999; 189: 416-424. (Pubitemid 29489228)
-
(1999)
Journal of Pathology
, vol.189
, Issue.3
, pp. 416-424
-
-
Bijvoet, A.G.A.1
Van Hirtum, H.2
Vermey, M.3
Van Leenen, D.4
Van Der Ploeg, A.T.5
Mooi, W.J.6
Reuser, A.J.J.7
-
29
-
-
79952202659
-
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease
-
Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C: Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 2010; 257: 1730-1733.
-
(2010)
J Neurol
, vol.257
, pp. 1730-1733
-
-
Sacconi, S.1
Bocquet, J.D.2
Chanalet, S.3
Tanant, V.4
Salviati, L.5
Desnuelle, C.6
-
30
-
-
47049095911
-
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
-
Laforet P, Petiot P, Nicolino M, et al: Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 2008; 70: 2063-2066.
-
(2008)
Neurology
, vol.70
, pp. 2063-2066
-
-
Laforet, P.1
Petiot, P.2
Nicolino, M.3
-
31
-
-
23944445667
-
The natural course of non-classic Pompe's disease; a review of 225 published cases
-
DOI 10.1007/s00415-005-0922-9
-
Winkel LP, Hagemans ML, van Doorn PA, et al: The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 2005; 252: 875-884. (Pubitemid 41186956)
-
(2005)
Journal of Neurology
, vol.252
, Issue.8
, pp. 875-884
-
-
Winkel, L.P.F.1
Hagemans, M.L.C.2
Van Doorn, P.A.3
Loonen, M.C.B.4
Hop, W.J.C.5
Reuser, A.J.J.6
Van Der Ploeg, A.T.7
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