-
1
-
-
0000995321
-
Glycogen storage disease type ii: Acid alpha-glucosidase (acid maltase) deficiency
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 8th ed. New York: McGraw-Hill
-
Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001:3389-3420
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
2
-
-
33646830132
-
A retrospective, multinational, multicenter study on the natural history of infantile-onset pompe disease
-
Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148:671-676
-
(2006)
J Pediatr
, vol.148
, pp. 671-676
-
-
Kishnani, P.S.1
Hwu, W.L.2
Mandel, H.3
-
3
-
-
0042131675
-
The natural course of infantile pompe's disease: 20 original cases compared with 133 cases from the literature
-
Van den Hout JMP, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-340
-
(2003)
Pediatrics
, vol.112
, pp. 332-340
-
-
Van Den Hout, J.M.P.1
Hop, W.2
Van Diggelen, O.P.3
-
5
-
-
0034729963
-
Recombinant human α-glucosidase from rabbit milk in pompe patients
-
Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT. Recombinant human α-glucosidase from rabbit milk in Pompe patients. Lancet 2000;356: 397-398
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van Den Hout, H.1
Reuser, A.J.2
Vulto, A.G.3
Loonen, M.C.4
Cromme-Dijkhuis, A.5
Van Der Ploeg, A.T.6
-
6
-
-
0035746540
-
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type ii: Results of a phase i/ii clinical trial
-
Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001;3:132-138
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
-
7
-
-
33846033132
-
Recombinant human acid α-glucosidase: Major clinical benefits in infantileonset pompe disease
-
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid α-glucosidase: major clinical benefits in infantileonset Pompe disease. Neurology 2007;68:99-109
-
(2007)
Neurology
, vol.68
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
-
8
-
-
79952562144
-
Treatment of infantile pompe disease with alglucosidase alpha: The uk experience
-
Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 2010;33: 747-750
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 747-750
-
-
Chakrapani, A.1
Vellodi, A.2
Robinson, P.3
Jones, S.4
Wraith, J.E.5
-
9
-
-
70350448214
-
Early treatment with alglucosidase alfa prolongs long-term survival of infants with pompe disease
-
Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alfa prolongs long-term survival of infants with Pompe disease. Pediatr Res 2009;66:329-335
-
(2009)
Pediatr Res
, vol.66
, pp. 329-335
-
-
Kishnani, P.S.1
Corzo, D.2
Leslie, N.D.3
-
10
-
-
48949117579
-
Lysosomal storage diseases and the blood-brain barrier
-
Begley DJ, Pontikis CC, Scarpa M. Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des 2008; 14:1566-1580
-
(2008)
Curr Pharm Des
, vol.14
, pp. 1566-1580
-
-
Begley, D.J.1
Pontikis, C.C.2
Scarpa, M.3
-
11
-
-
0015929582
-
Pompe's disease: An inborn lysosomal disorder with storage of glycogen: A study of brain and striated muscle
-
Martin JJ, de Barsy T, van Hoof F, Palladini G. Pompe's disease: an inborn lysosomal disorder with storage of glycogen: a study of brain and striated muscle. Acta Neuropathol 1973;23:229-244
-
(1973)
Acta Neuropathol
, vol.23
, pp. 229-244
-
-
Martin, J.J.1
De Barsy, T.2
Van Hoof, F.3
Palladini, G.4
-
12
-
-
0015093712
-
Nervous system in pompe's disease: Ultrastructure and biochemistry
-
Gambetti P, DiMauro S, Baker L. Nervous system in Pompe's disease: ultrastructure and biochemistry. J Neuropathol Exp Neurol 30:412-430, 1971
-
(1971)
J Neuropathol Exp Neurol
, vol.30
, pp. 412-430
-
-
Gambetti, P.1
DiMauro, S.2
Baker, L.3
-
14
-
-
0035845610
-
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2
-
Martini C, Ciana G, Benettoni A, et al. Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology 2001;57:906-908
-
(2001)
Neurology
, vol.57
, pp. 906-908
-
-
Martini, C.1
Ciana, G.2
Benettoni, A.3
-
15
-
-
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
-
16
-
-
33751211826
-
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
-
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
-
(2006)
Lab Invest
, vol.86
, pp. 1208-1220
-
-
Thurberg, B.L.1
Lynch Maloney, C.2
Vaccaro, C.3
-
17
-
-
33747609102
-
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
-
Chien YH, Lee NC, Peng SF, Hwu WL. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res 2006;60:349-352
-
(2006)
Pediatr Res
, vol.60
, pp. 349-352
-
-
Chien, Y.H.1
Lee, N.C.2
Peng, S.F.3
Hwu, W.L.4
-
18
-
-
79952551617
-
Crimnegative infantile pompe disease: 42-month treatment outcome
-
Rohrbach M, Klein A, Köhli-Wiesner A, et al. CRIMnegative infantile Pompe disease: 42-month treatment outcome. J Inherit Metab Dis 2010;33:751-757
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 751-757
-
-
Rohrbach, M.1
Klein, A.2
Köhli-Wiesner, A.3
-
19
-
-
2942570942
-
Long-term intravenous treatment of pompe disease with recombinant human α-glucosidase from milk
-
Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human α-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
-
21
-
-
0004245140
-
-
2nd ed. Oxford UK: The Test Agency Limited
-
Griffiths R. The Abilities of Babies, 2nd ed. Oxford, UK: The Test Agency Limited; 1986
-
(1986)
The Abilities of Babies
-
-
Griffiths, R.1
-
28
-
-
0000869162
-
The mucopolysaccharidosis
-
In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. 8th ed. New York: McGraw-Hill
-
Neufeld EF, Muenzer J. The mucopolysaccharidosis. In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001:3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
29
-
-
77953019480
-
Niemann-pick disease type c
-
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
30
-
-
84855570602
-
Early administration of enzyme replacement therapy for pompe disease: Short-term follow-up results
-
Hamdan MA, Almalik MH, Mirghani HM. Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. J Inherit Metab Dis 2008;31(suppl 2):S431-S436
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.SUPPL. 2
-
-
Hamdan, M.A.1
Almalik, M.H.2
Mirghani, H.M.3
-
31
-
-
33746151202
-
Chinese hamster ovary cell derived recombinant human acid α-glucosidase in infantile onset pompe disease
-
Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell derived recombinant human acid α-glucosidase in infantile onset Pompe disease. J Pediatr 2006;149:89-97
-
(2006)
J Pediatr
, vol.149
, pp. 89-97
-
-
Kishnani, P.S.1
Nicolino, M.2
Voit, T.3
-
32
-
-
0038546958
-
Morphological changes in muscle tissue of patients with infantile pompe's disease receiving enzyme replacement therapy
-
Winkel LPF, Kamphoven JHJ, van den Hout JMP, et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve 2003;27:743-751
-
(2003)
Muscle Nerve
, vol.27
, pp. 743-751
-
-
Winkel, L.P.F.1
Kamphoven, J.H.J.2
Van Den Hout, J.M.P.3
-
33
-
-
77957253422
-
White matter: Organisation and functional relevance
-
Filly CM. White matter: organisation and functional relevance. Neuropsychol Rev 2010;20:158-173
-
(2010)
Neuropsychol Rev
, vol.20
, pp. 158-173
-
-
Filly, C.M.1
-
35
-
-
79955443986
-
Total brain white matter is a major determinant of iq in adolescents born preterm
-
Northam GB, Liégeois F, Chong WK, Wyatt JS, Baldeweg T. Total brain white matter is a major determinant of IQ in adolescents born preterm. Ann Neurol 2011;69:702-711
-
(2011)
Ann Neurol
, vol.69
, pp. 702-711
-
-
Northam, G.B.1
Liégeois, F.2
Chong, W.K.3
Wyatt, J.S.4
Baldeweg, T.5
-
36
-
-
33747337524
-
Neonatal mri to predict neurodevelopmental outcomes in preterm infants
-
Woodward LJ, Anderson PJ, Austin NC, Howard K, Inder TE. Neonatal MRI to predict neurodevelopmental outcomes in preterm infants. N Engl J Med 2006;355:685-694
-
(2006)
N Engl J Med
, vol.355
, pp. 685-694
-
-
Woodward, L.J.1
Anderson, P.J.2
Austin, N.C.3
Howard, K.4
Inder, T.E.5
-
37
-
-
77957562010
-
Hearing loss in pompe disease revisited: Results from a study of 24 children
-
Van Capelle CI, Goedegebure A, Homans NC, Hoeve HLJ, Reuser AJ, van der Ploeg AT. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis 2010;33:597-602
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 597-602
-
-
Van Capelle, C.I.1
Goedegebure, A.2
Homans, N.C.3
Hoeve, H.L.J.4
Reuser, A.J.5
Van Der Ploeg, A.T.6
-
38
-
-
84863303643
-
Facialmuscle weakness, speech disorders and dysphagia are common in patients with classic infantile pompe disease treated with enzyme therapy
-
Epub 2011 Oct 19
-
Van Gelder CM, van Capelle CI, Ebbink BJ, et al. Facialmuscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis Epub 2011 Oct 19
-
J Inherit Metab Dis
-
-
Van Gelder, C.M.1
Van Capelle, C.I.2
Ebbink, B.J.3
-
39
-
-
65449120324
-
Language and speech function in children with infantile pompe disease
-
Muller CW, Jones HN, O'Grady G, Suárez AH, Heller JH, Kishnani PS. Language and speech function in children with infantile Pompe disease. J Pediatr Neurol 2009; 7:147-156.
-
(2009)
J Pediatr Neurol
, vol.7
, pp. 147-156
-
-
Muller, C.W.1
Jones, H.N.2
O'Grady, G.3
Suárez, A.H.4
Heller, J.H.5
Kishnani, P.S.6
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