-
1
-
-
0000995321
-
Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
-
Scriver CR, Beaudet A, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
-
Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol. III. New York, NY: McGraw-Hill, 2001:3389-3420
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.3
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.J.2
-
3
-
-
0029084459
-
Genotype-phenotype correlation in adult-onset acid maltase deficiency
-
Wokke JH, Ausems MG, van den Boogaard MJ, et al. Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol. 1995;38:450-454
-
(1995)
Ann Neurol
, vol.38
, pp. 450-454
-
-
Wokke, J.H.1
Ausems, M.G.2
Van den Boogaard, M.J.3
-
4
-
-
0033837749
-
Identification of two subtypes of infantile acid maltase deficiency
-
Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000;137:283-285
-
(2000)
J Pediatr
, vol.137
, pp. 283-285
-
-
Slonim, A.E.1
Bulone, L.2
Ritz, S.3
Goldberg, T.4
Chen, A.5
Martiniuk, F.6
-
5
-
-
0032848015
-
Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling
-
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
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 713-716
-
-
Ausems, M.G.1
Verbiest, J.2
Hermans, M.P.3
-
6
-
-
0031695078
-
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
-
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 [letter]. Am J Med Genet. 1998;79:69-72
-
(1998)
Am J Med Genet
, vol.79
, pp. 69-72
-
-
Martiniuk, F.1
Chen, A.2
Mack, A.3
-
7
-
-
0035009304
-
Enzyme therapy for pompe disease with recombinant human α-glucosidase from rabbit milk
-
Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT. Enzyme therapy for pompe disease with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266-274
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 266-274
-
-
Van den Hout, J.M.1
Reuser, A.J.2
De Klerk, J.B.3
Arts, W.F.4
Smeitink, J.A.5
Van der Ploeg, A.T.6
-
8
-
-
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
-
9
-
-
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
-
10
-
-
0041689500
-
Glycogen storage disease of the heart II. Critical review of the literature
-
Di Sant' Agnese PA, Andersen DH, Howard HM. Glycogen storage disease of the heart II. Critical review of the literature. Pediatrics. 1950;6:607-623
-
(1950)
Pediatrics
, vol.6
, pp. 607-623
-
-
Di Sant' Agnese, P.A.1
Andersen, D.H.2
Howard, H.M.3
-
11
-
-
84923991605
-
Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow
-
Ehlers KH, Hagstrom JWC, Lukas S, Redo SF, Engle MA. Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation. 1962;25:96-109
-
(1962)
Circulation
, vol.25
, pp. 96-109
-
-
Ehlers, K.H.1
Hagstrom, J.W.C.2
Lukas, S.3
Redo, S.F.4
Engle, M.A.5
-
12
-
-
73649187940
-
α-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)
-
Hers HG. α-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochem J. 1963;86:11-16
-
(1963)
Biochem J
, vol.86
, pp. 11-16
-
-
Hers, H.G.1
-
13
-
-
0032698194
-
Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
-
Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. 1999;8:2145-2153
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2145-2153
-
-
Bijvoet, A.G.1
Van Hirtum, H.2
Kroos, M.A.3
-
14
-
-
0017799772
-
Biochemical, immunological, and cell genetic studies in glycogenosis type II
-
Reuser AJ, Koster JF, Hoogeveen A, Galjaard H. Biochemical, immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet. 1978;30:132-143
-
(1978)
Am J Hum Genet
, vol.30
, pp. 132-143
-
-
Reuser, A.J.1
Koster, J.F.2
Hoogeveen, A.3
Galjaard, H.4
-
15
-
-
0031937991
-
Glycogen Storage Disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
-
Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat. 1998;11:209-215
-
(1998)
Hum Mutat
, vol.11
, pp. 209-215
-
-
Hermans, M.M.1
Kroos, M.A.2
Smeitink, J.A.3
Van der Ploeg, A.T.4
Kleijer, W.J.5
Reuser, A.J.6
-
16
-
-
0022256691
-
Defects in synthesis, phosphorylation, and maturation of acid α-glucosidase in glycogenosis type II
-
Reuser AJ, Kroos M, Oude Elferink RP, Tager JM. Defects in synthesis, phosphorylation, and maturation of acid α-glucosidase in glycogenosis type II. J Biol Chem. 1985;260:8336-41
-
(1985)
J Biol Chem
, vol.260
, pp. 8336-8341
-
-
Reuser, A.J.1
Kroos, M.2
Oude Elferink, R.P.3
Tager, J.M.4
-
17
-
-
0018231715
-
Recommendations regarding quantitation in M-mode echocardiography: Results of a survey of echocardiographic measurements
-
Sahn DJ, DeMaria A, Kisslo J, Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation. 1978;58:1072-1083
-
(1978)
Circulation
, vol.58
, pp. 1072-1083
-
-
Sahn, D.J.1
DeMaria, A.2
Kisslo, J.3
Weyman, A.4
-
18
-
-
0022462261
-
Pompe's disease in identical twins
-
Agarwala BN. Pompe's disease in identical twins. Hosp Pract (Off Ed). 1986;21:146-148, 153, 156-158
-
(1986)
Hosp Pract (Off Ed)
, vol.21
, pp. 146-148
-
-
Agarwala, B.N.1
-
19
-
-
0021149457
-
Secondary hypertrophic cardiomyopathy in infancy and childhood
-
Alday LE, Moreyra E. Secondary hypertrophic cardiomyopathy in infancy and childhood. Am Heart J. 1984;108:996-1000
-
(1984)
Am Heart J
, vol.108
, pp. 996-1000
-
-
Alday, L.E.1
Moreyra, E.2
-
20
-
-
0042190102
-
Enlargement of the heart due to abnormal glycogen storage. In von Gierke disease
-
Antopol W, Heilbruinn J, Tuchman L. Enlargement of the heart due to abnormal glycogen storage. In von Gierke disease. Am J Med Sci. 1934;188:354-359
-
(1934)
Am J Med Sci
, vol.188
, pp. 354-359
-
-
Antopol, W.1
Heilbruinn, J.2
Tuchman, L.3
-
21
-
-
0017183106
-
An autopsy case of type II glycogenosis
-
Asukata I, Aizawa S, Kosakai M, Kirino Y, Ishikawa E. An autopsy case of type II glycogenosis. Acta Pathol Jpn. 1976;26:629-635
-
(1976)
Acta Pathol Jpn
, vol.26
, pp. 629-635
-
-
Asukata, I.1
Aizawa, S.2
Kosakai, M.3
Kirino, Y.4
Ishikawa, E.5
-
22
-
-
0017761754
-
Vacuolated lymphocytes in type II glycogenosis - A diagnostic approach?
-
von Bassewitz DB, Bremer HJ, Bourgeois M, Grobe H, Stoermer J. Vacuolated lymphocytes in type II glycogenosis - a diagnostic approach? Eur J Pediatr. 1977;127:1-7
-
(1977)
Eur J Pediatr
, vol.127
, pp. 1-7
-
-
Von Bassewitz, D.B.1
Bremer, H.J.2
Bourgeois, M.3
Grobe, H.4
Stoermer, J.5
-
23
-
-
0029797331
-
Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II
-
Ausems MG, Kroos MA, Van der Kraan M, et al. Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II. Clin Genet. 1996;49:325-328
-
(1996)
Clin Genet
, vol.49
, pp. 325-328
-
-
Ausems, M.G.1
Kroos, M.A.2
Van der Kraan, M.3
-
25
-
-
0019166964
-
Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report
-
Bonnici F, Shapiro R, Joffe HS, Petersen EM. Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report. S Afr Med J. 1980;58:860-862
-
(1980)
S Afr Med J
, vol.58
, pp. 860-862
-
-
Bonnici, F.1
Shapiro, R.2
Joffe, H.S.3
Petersen, E.M.4
-
26
-
-
0018151103
-
Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome
-
Bulkley BH, Hutchins GM. Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. Am Heart J. 1978;96:246-252
-
(1978)
Am Heart J
, vol.96
, pp. 246-252
-
-
Bulkley, B.H.1
Hutchins, G.M.2
-
27
-
-
0043192407
-
Observations on generalized glycogenosis with emphasis on electrocardiographic changes
-
Cadell J, Whittemore R. Observations on generalized glycogenosis with emphasis on electrocardiographic changes. Pediatrics. 1962:743-763
-
(1962)
Pediatrics
, pp. 743-763
-
-
Cadell, J.1
Whittemore, R.2
-
28
-
-
0024099017
-
Pompe's disease: Report of a neonatal case
-
Chen MR, Lin SP, Loo JH, Sung TC, Chen BF. Pompe's disease: report of a neonatal case. Taiwan Yi Xue Hui Za Zhi. 1988;87:1017-1020
-
(1988)
Taiwan Yi Xue Hui Za Zhi
, vol.87
, pp. 1017-1020
-
-
Chen, M.R.1
Lin, S.P.2
Loo, J.H.3
Sung, T.C.4
Chen, B.F.5
-
29
-
-
0042190159
-
Glycogen disease of the heart. Report of two cases occurring in siblings
-
Childs AW, Crose RF, Henderson PH. Glycogen disease of the heart. Report of two cases occurring in siblings. Pediatrics. 1952;10:208
-
(1952)
Pediatrics
, vol.10
, pp. 208
-
-
Childs, A.W.1
Crose, R.F.2
Henderson, P.H.3
-
30
-
-
0042190104
-
Glycogen disease resembling mongolism, cretinism and amyotonia congenita; case report and review of literature
-
Clement DH, Godman GC. Glycogen disease resembling mongolism, cretinism and amyotonia congenita; case report and review of literature. J Pediatr. 1950:11-13
-
(1950)
J Pediatr
, pp. 11-13
-
-
Clement, D.H.1
Godman, G.C.2
-
31
-
-
0018103448
-
Morphologic changes of lymphocytes in Pompe disease
-
Coppola A, Munoz A, Sher J. Morphologic changes of lymphocytes in Pompe disease. J Pediatr. 1978;93:824-826
-
(1978)
J Pediatr
, vol.93
, pp. 824-826
-
-
Coppola, A.1
Munoz, A.2
Sher, J.3
-
32
-
-
0023114744
-
Parental genetic contribution to mode of presentation in Pompe disease
-
Cottrill CM, Johnson GL, Noonan JA. Parental genetic contribution to mode of presentation in Pompe disease. Pediatrics. 1987;79:379-381
-
(1987)
Pediatrics
, vol.79
, pp. 379-381
-
-
Cottrill, C.M.1
Johnson, G.L.2
Noonan, J.A.3
-
33
-
-
0042691320
-
Neuropathological and neurochemical aspects of generalized glycogen storage disease
-
Crome L, Cumings JN, Duckett S. Neuropathological and neurochemical aspects of generalized glycogen storage disease. J Neurol Neurosurg Psychiat. 1963;26:422-430
-
(1963)
J Neurol Neurosurg Psychiat
, vol.26
, pp. 422-430
-
-
Crome, L.1
Cumings, J.N.2
Duckett, S.3
-
34
-
-
0042190160
-
Glycogen storage disease of the heart I. Report of two cases in siblings with chemical and pathological studies
-
Di Sant' Agnese PA, Andersen DH, Mason HH, Bauman WA. Glycogen storage disease of the heart I. Report of two cases in siblings with chemical and pathological studies. Ann N Y Acad Sci. 1950;72:402-424
-
(1950)
Ann N Y Acad Sci
, vol.72
, pp. 402-424
-
-
Di Sant' Agnese, P.A.1
Andersen, D.H.2
Mason, H.H.3
Bauman, W.A.4
-
35
-
-
0018409258
-
Unusual angiographic appearances of the left ventricle in 2 cases of Pompe's disease (glycogenosis type II)
-
Dickinson DF, Houlsby WT, Wilkinson JL. Unusual angiographic appearances of the left ventricle in 2 cases of Pompe's disease (glycogenosis type II). Br Heart J. 1979;41:238-240
-
(1979)
Br Heart J
, vol.41
, pp. 238-240
-
-
Dickinson, D.F.1
Houlsby, W.T.2
Wilkinson, J.L.3
-
36
-
-
0042190105
-
Glycogen storage disease of the heart. Clinical observations in five infants
-
Friedman S, Ash R. Glycogen storage disease of the heart. Clinical observations in five infants. J Pediatr. 1958;52:635-647
-
(1958)
J Pediatr
, vol.52
, pp. 635-647
-
-
Friedman, S.1
Ash, R.2
-
37
-
-
0024600523
-
Pompe's disease presenting as supraventricular tachycardia
-
Fung KP, Lo RN, Ho HC. Pompe's disease presenting as supraventricular tachycardia. Aust Paediatr J. 1989;25:101-102
-
(1989)
Aust Paediatr J
, vol.25
, pp. 101-102
-
-
Fung, K.P.1
Lo, R.N.2
Ho, H.C.3
-
38
-
-
0014250965
-
Type II glycogenosis. Biochemical and electron microscopic study
-
Garancis JC. Type II glycogenosis. Biochemical and electron microscopic study. Am J Med. 1968;44:289-300
-
(1968)
Am J Med
, vol.44
, pp. 289-300
-
-
Garancis, J.C.1
-
39
-
-
0023890070
-
Ichthyosiform scating in α-1, 4-glucosidase deficiency
-
Gebhart W, Mainitz M, Jurecka W, et al. [Ichthyosiform scating in α-1, 4-glucosidase deficiency]. Hautarzt. 1988;39:228-232
-
(1988)
Hautarzt
, vol.39
, pp. 228-232
-
-
Gebhart, W.1
Mainitz, M.2
Jurecka, W.3
-
40
-
-
0001057953
-
Glukagonprobleme bei glykogenspeicherkrankheiten
-
Gitzelman R. Glukagonprobleme bei glykogenspeicherkrankheiten. Helv Paediatr Acta. 1957:425-490
-
(1957)
Helv Paediatr Acta
, pp. 425-490
-
-
Gitzelman, R.1
-
41
-
-
0013886149
-
Cardiac glycogenosis. Hemodynamic, angiocardiographic, and electron microscopic findings - Report of a case
-
Hernandez A Jr, Marchesi V, Goldring D, Kissane J, Hartmann AF Jr. Cardiac glycogenosis. Hemodynamic, angiocardiographic, and electron microscopic findings - report of a case. J Pediatr. 1966;68:400-412
-
(1966)
J Pediatr
, vol.68
, pp. 400-412
-
-
Hernandez A., Jr.1
Marchesi, V.2
Goldring, D.3
Kissane, J.4
Hartmann A.F., Jr.5
-
42
-
-
0043192406
-
J Glykogenspeicherkrankheiten unter dem klinischen bilde des myxodems
-
Hertz W, E. J Glykogenspeicherkrankheiten unter dem klinischen bilde des myxodems. Z Kinderheilkd. 1936:58-60
-
(1936)
Z Kinderheilkd
, pp. 58-60
-
-
Hertz, W.E.1
-
43
-
-
0042190161
-
Familial cardiac glycogen storage disease
-
Hinerman DL. Familial cardiac glycogen storage disease. Arch Path Anat. 1955;331:359-368
-
(1955)
Arch Path Anat
, vol.331
, pp. 359-368
-
-
Hinerman, D.L.1
-
45
-
-
0041689498
-
Cardiac problems in the glycogenoses with specific reference to Pompe's disease
-
Hohn AR, Lowe CU, Sokal JE. Cardiac problems in the glycogenoses with specific reference to Pompe's disease Pediatrics. 1965:313-321
-
(1965)
Pediatrics
, pp. 313-321
-
-
Hohn, A.R.1
Lowe, C.U.2
Sokal, J.E.3
-
47
-
-
0027937760
-
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
-
Huie ML, Hirschhorn R, Chen AS, Martiniuk F, Zhong N. Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). Hum Mutat. 1994;4:291-293
-
(1994)
Hum Mutat
, vol.4
, pp. 291-293
-
-
Huie, M.L.1
Hirschhorn, R.2
Chen, A.S.3
Martiniuk, F.4
Zhong, N.5
-
48
-
-
0042190162
-
Glycogen storage disease
-
Humphreys ME, Kato K. Glycogen storage disease. Am J Pathol. 1934;10:589-617
-
(1934)
Am J Pathol
, vol.10
, pp. 589-617
-
-
Humphreys, M.E.1
Kato, K.2
-
49
-
-
0022596771
-
Clinical analysis of five infants with glycogen storage disease of the heart-Pompe's disease
-
Hwang B, Meng CC, Lin CY, Hsu HC. Clinical analysis of five infants with glycogen storage disease of the heart-Pompe's disease. Jpn Heart J. 1986;27:25-34
-
(1986)
Jpn Heart J
, vol.27
, pp. 25-34
-
-
Hwang, B.1
Meng, C.C.2
Lin, C.Y.3
Hsu, H.C.4
-
51
-
-
0041689497
-
Glycogenose cardiaque. Presentations anatomique de deux cas
-
Jean C, Miller G. Glycogenose cardiaque. Presentations anatomique de deux cas. Laval Med. 1960;29:447-456
-
(1960)
Laval Med
, vol.29
, pp. 447-456
-
-
Jean, C.1
Miller, G.2
-
52
-
-
0041689495
-
Observation anatomoclinique d'un cas de glycogenose cardiaque diffuse (maladie de Pompe) avec fibroelastosis de l'endocard
-
Jeune M, Larbre F, Muller JM, Texier D'Arnoult A. Observation anatomoclinique d'un cas de glycogenose cardiaque diffuse (maladie de Pompe) avec fibroelastosis de l'endocard. Pediatrie. 1959;14:399-407
-
(1959)
Pediatrie
, vol.14
, pp. 399-407
-
-
Jeune, M.1
Larbre, F.2
Muller, J.M.3
Texier D'Arnoult, A.4
-
53
-
-
0043192405
-
Glycogen storage diseases. I. Familial cardiac glycogen storage diseases: Report of two cases and discussion of relation to other forms of abnormal glycogen deposition
-
Landing BH, Bangle R. Glycogen storage diseases. I. Familial cardiac glycogen storage diseases: report of two cases and discussion of relation to other forms of abnormal glycogen deposition. J Tech Meth Int A Mes Museums Bull 1950;31:84
-
(1950)
J Tech Meth Int A Mes Museums Bull
, vol.31
, pp. 84
-
-
Landing, B.H.1
Bangle, R.2
-
55
-
-
0042691322
-
Disorders of glycogen metabolism. With special reference to glycogen storage disease and galactosemia
-
Langewisch WH, Bigler JA. Disorders of glycogen metabolism. With special reference to glycogen storage disease and galactosemia. Padiatrics. 1952;9:263-279
-
(1952)
Padiatrics
, vol.9
, pp. 263-279
-
-
Langewisch, W.H.1
Bigler, J.A.2
-
56
-
-
0030064683
-
Cerebral MR manifestations of Pompe disease in an infant
-
Lee CC, Chen CY, Chou TY, Chen FH, Zimmerman RA. Cerebral MR manifestations of Pompe disease in an infant. AJNR Am J Neuroradiol. 1996;17:321-322
-
(1996)
AJNR Am J Neuroradiol
, vol.17
, pp. 321-322
-
-
Lee, C.C.1
Chen, C.Y.2
Chou, T.Y.3
Chen, F.H.4
Zimmerman, R.A.5
-
57
-
-
0014089729
-
Glycogen storage disease in Israel. A clinical, biochemical and genetic study
-
Levin S, Moses SW, Chayoth R, Jagoda N, Steinitz K. Glycogen storage disease in Israel. A clinical, biochemical and genetic study. Isr J Med Sci. 1967;3:397-410
-
(1967)
Isr J Med Sci
, vol.3
, pp. 397-410
-
-
Levin, S.1
Moses, S.W.2
Chayoth, R.3
Jagoda, N.4
Steinitz, K.5
-
58
-
-
0029118526
-
Identification of a de Novo point mutation resulting in infantile form of Pompe's disease
-
Lin CY, Shieh JJ. Identification of a de Novo point mutation resulting in infantile form of Pompe's disease. Biochem Biophys Res Commun. 1995;213:367
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 367
-
-
Lin, C.Y.1
Shieh, J.J.2
-
59
-
-
0019492731
-
A family with different clinical forms of acid maltase deficiency (glycogenosis type II): Biochemical and genetic studies
-
Loonen MC, Busch HF, Koster JF, et al. A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies. Neurology. 1981;31:1209-1216
-
(1981)
Neurology
, vol.31
, pp. 1209-1216
-
-
Loonen, M.C.1
Busch, H.F.2
Koster, J.F.3
-
60
-
-
0023192165
-
Very early presentation of Pompe's disease and its cross-sectional echocardiographic features
-
Lorber A, Luder AS. Very early presentation of Pompe's disease and its cross-sectional echocardiographic features. Int J Cardiol. 1987;16:311-314
-
(1987)
Int J Cardiol
, vol.16
, pp. 311-314
-
-
Lorber, A.1
Luder, A.S.2
-
61
-
-
0016706466
-
Clinical, biochemical, morphological and electrophysiological studies of glycogenosis Type II in childhood with double deficiency of enzymes
-
Luck R, Platt D, Lange RH, Kunze K. [Clinical, biochemical, morphological and electrophysiological studies of glycogenosis Type II in childhood with double deficiency of enzymes (author's transl)]. Z Kinderheilkd. 1975;120:19-28
-
(1975)
Z Kinderheilkd
, vol.120
, pp. 19-28
-
-
Luck, R.1
Platt, D.2
Lange, R.H.3
Kunze, K.4
-
62
-
-
0042691276
-
Sulla ipertrophia di cuore idiopatica congenita
-
Manca A. Sulla ipertrophia di cuore idiopatica congenita. Cuore Circ. 1936;20:513
-
(1936)
Cuore Circ
, vol.20
, pp. 513
-
-
Manca, A.1
-
64
-
-
0041689496
-
Glycogen disease. Reports of two cases with cardiomegaly
-
Martin JG, Bonte FJ. Glycogen disease. Reports of two cases with cardiomegaly. Am J Roentgenol. 1951;66:922-1951
-
(1951)
Am J Roentgenol
, vol.66
, pp. 922-1951
-
-
Martin, J.G.1
Bonte, F.J.2
-
65
-
-
0042691321
-
Glycogen storage disease of the myocardium
-
Mazzitello WF, Briggs JF. Glycogen storage disease of the myocardium. Dis Chest. 1957;32:636-645
-
(1957)
Dis Chest
, vol.32
, pp. 636-645
-
-
Mazzitello, W.F.1
Briggs, J.F.2
-
66
-
-
0022980630
-
Pompe's disease and anaesthesia
-
McFarlane HJ, Soni N. Pompe's disease and anaesthesia. Anaesthesia. 1986;41:1219-1224
-
(1986)
Anaesthesia
, vol.41
, pp. 1219-1224
-
-
McFarlane, H.J.1
Soni, N.2
-
67
-
-
0033031890
-
An interesting case of infant sudden death: Severe hypertrophic cardiomyopathy in Pompe's disease
-
Metzl JD, Elias ER, Berul CI. An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999;22:821-822
-
(1999)
Pacing Clin Electrophysiol
, vol.22
, pp. 821-822
-
-
Metzl, J.D.1
Elias, E.R.2
Berul, C.I.3
-
68
-
-
72849179680
-
Glycogenose cardiomusculaire du nourrisson. Essai de determination du trouble enzymatique
-
Monnet P, Larbre F, Gauthier J, Verney R. Glycogenose cardiomusculaire du nourrisson. Essai de determination du trouble enzymatique. Pediatric. 1960;15:60-63
-
(1960)
Pediatric
, vol.15
, pp. 60-63
-
-
Monnet, P.1
Larbre, F.2
Gauthier, J.3
Verney, R.4
-
69
-
-
0043192403
-
Hypertrophie cardiaque congenitale primitive avec stenose pylorique hypertrophyque. Syndrome polycorique par infiltration glycogenique
-
Muggia A. Hypertrophie cardiaque congenitale primitive avec stenose pylorique hypertrophyque. Syndrome polycorique par infiltration glycogenique. Rev Franc de Pediat. 1936:774-792
-
(1936)
Rev Franc de Pediat
, pp. 774-792
-
-
Muggia, A.1
-
70
-
-
0042190158
-
Glycogen-storage disease. Report of a case with generalized glycogenosis and review of the literature
-
Muller OF, Bellet S, Ertrugrul A. Glycogen-storage disease. Report of a case with generalized glycogenosis and review of the literature. Circulation. 1961;23:261-268
-
(1961)
Circulation
, vol.23
, pp. 261-268
-
-
Muller, O.F.1
Bellet, S.2
Ertrugrul, A.3
-
71
-
-
35848935071
-
Over aangeboren groot hart, speciaal in verband met de glycogeenziekte
-
Mutgeert, BL. Over aangeboren groot hart, speciaal in verband met de glycogeenziekte. Maandschr Kindergeneeskd. 1937;6:233-245
-
(1937)
Maandschr Kindergeneeskd
, vol.6
, pp. 233-245
-
-
Mutgeert, B.L.1
-
73
-
-
0000314638
-
Over idiopathische hypertrophie van het hart
-
Pompe JC. Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304-311
-
(1932)
Ned Tijdschr Geneeskd
, vol.76
, pp. 304-311
-
-
Pompe, J.C.1
-
74
-
-
0004672970
-
Uber angeborene Glycogenspeicherkrankheit des Herzens-"Thesaurismosis glycogenica"
-
Putschar W. Uber angeborene Glycogenspeicherkrankheit des Herzens-"Thesaurismosis glycogenica"[v. Gierke]. Beitr Pathol Anat. 1932:222-231
-
(1932)
Beitr Pathol Anat
, pp. 222-231
-
-
Putschar, W.1
-
75
-
-
0042691285
-
Zum klinischen Bild der Glycogenspeicherkrankheiten
-
Bischoff G. Zum klinischen Bild der Glycogenspeicherkrankheiten. Z Kinderheilkd. 1932:722-726
-
(1932)
Z Kinderheilkd
, pp. 722-726
-
-
Bischoff, G.1
-
76
-
-
0017179896
-
Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart)
-
Rees A, Elbl F, Minhas K, Solinger R. Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart). Am J Cardiol. 1976;37:1103-1106
-
(1976)
Am J Cardiol
, vol.37
, pp. 1103-1106
-
-
Rees, A.1
Elbl, F.2
Minhas, K.3
Solinger, R.4
-
77
-
-
0023005703
-
Anaesthesia for diagnostic muscle biopsy in an infant with Pompe's disease
-
Rosen KR, Broadman LM. Anaesthesia for diagnostic muscle biopsy in an infant with Pompe's disease. Can Anaesth Soc J. 1986;33:790-794
-
(1986)
Can Anaesth Soc J
, vol.33
, pp. 790-794
-
-
Rosen, K.R.1
Broadman, L.M.2
-
79
-
-
0005908720
-
Glycogen-storage disease of the heart. Hemodynamic and angiocardiographic features in 2 cases
-
Ruttenberg HD, Steidl RM, Carey LS, Edwards JE. Glycogen-storage disease of the heart. Hemodynamic and angiocardiographic features in 2 cases. Am Heart J. 1964:469-480
-
(1964)
Am Heart J
, pp. 469-480
-
-
Ruttenberg, H.D.1
Steidl, R.M.2
Carey, L.S.3
Edwards, J.E.4
-
80
-
-
0016318559
-
Glycogenosis type II (Pompe). The fourth autopsy case in Japan
-
Sakurai I, Tosaka A, Mori Y, Imura S, Aoki K. Glycogenosis type II (Pompe). The fourth autopsy case in Japan. Acta Pathol Jpn. 1974;24:829-846
-
(1974)
Acta Pathol Jpn
, vol.24
, pp. 829-846
-
-
Sakurai, I.1
Tosaka, A.2
Mori, Y.3
Imura, S.4
Aoki, K.5
-
81
-
-
0020029260
-
Lipid storage myopathy in infantile Pompe's disease
-
Sarnat HB, Roth SI, Carroll JE, Brown BI, Dungan WT. Lipid storage myopathy in infantile Pompe's disease. Arch Neurol. 1982;39:180-183
-
(1982)
Arch Neurol
, vol.39
, pp. 180-183
-
-
Sarnat, H.B.1
Roth, S.I.2
Carroll, J.E.3
Brown, B.I.4
Dungan, W.T.5
-
82
-
-
0041689447
-
Uber die neuromuskulare form der glykogenspeicherungskrankheit
-
Schnabel R. Uber die neuromuskulare form der glykogenspeicherungskrankheit. Virchows Arch. 1958;331:287-313
-
(1958)
Virchows Arch
, vol.331
, pp. 287-313
-
-
Schnabel, R.1
-
83
-
-
0026584941
-
Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: Serial echocardiographic studies from birth to death at 6 months
-
Seifert BL, Snyder MS, Klein AA, O'Loughlin JE, Magid MS, Engle MA. Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months. Am Heart J. 1992;123:239-242
-
(1992)
Am Heart J
, vol.123
, pp. 239-242
-
-
Seifert, B.L.1
Snyder, M.S.2
Klein, A.A.3
O'Loughlin, J.E.4
Magid, M.S.5
Engle, M.A.6
-
84
-
-
0041689442
-
Die glykogenose des sauglings unter dem bilde einder todlich verlaufenden cerbrospinalen erkrankung
-
Selberg W. Die glykogenose des sauglings unter dem bilde einder todlich verlaufenden cerbrospinalen erkrankung. Z Kinderhefikd. 1953;72:306-320
-
(1953)
Z Kinderhefikd
, vol.72
, pp. 306-320
-
-
Selberg, W.1
-
86
-
-
0029987114
-
Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II
-
Shieh JJ, Lin CY. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II. Biochem Biophys Res Conumm. 1996;219:322-326
-
(1996)
Biochem Biophys Res Conumm
, vol.219
, pp. 322-326
-
-
Shieh, J.J.1
Lin, C.Y.2
-
88
-
-
0022970404
-
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia
-
Ullrich K, Grobe H, Korinthenberg R, von Bassewitz DB. Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia. Pathol Res Pract. 1986;181:627-632
-
(1986)
Pathol Res Pract
, vol.181
, pp. 627-632
-
-
Ullrich, K.1
Grobe, H.2
Korinthenberg, R.3
Von Bassewitz, D.B.4
-
89
-
-
0042691283
-
Investigations on glycogen disease
-
Van Creveld S. Investigations on glycogen disease. Dis Child. 1934:9-10
-
(1934)
Dis Child
, pp. 9-10
-
-
Van Creveld, S.1
-
90
-
-
0042190156
-
Glycogen disease
-
Van Creveld S. Glycogen disease. Medicine. 1939;1:1
-
(1939)
Medicine
, vol.1
, pp. 1
-
-
Van Creveld, S.1
-
91
-
-
0026347663
-
Infantile Pompe's disease, lipid storage, and partial carnifine deficiency
-
Verity MA. Infantile Pompe's disease, lipid storage, and partial carnifine deficiency. Muscle Nerve. 1991;14:435-440
-
(1991)
Muscle Nerve
, vol.14
, pp. 435-440
-
-
Verity, M.A.1
-
92
-
-
0043192363
-
Glycogen storage of a case with histochemical phosphate studies
-
Wachstein M. Glycogen storage of a case with histochemical phosphate studies. Am J Med Sci. 1947;214:401-409
-
(1947)
Am J Med Sci
, vol.214
, pp. 401-409
-
-
Wachstein, M.1
-
93
-
-
0026592724
-
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation
-
Wijburg FA, Rosenblatt DS, Vos GD, et al. Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. Eur J Pediatr. 1992;151:127-131
-
(1992)
Eur J Pediatr
, vol.151
, pp. 127-131
-
-
Wijburg, F.A.1
Rosenblatt, D.S.2
Vos, G.D.3
-
94
-
-
0032513919
-
Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease
-
Willemsen MA, Jira PE, Gabreels FJ, van der Ploeg AT, Smeitink JA. [Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease]. Ned Tijdschr Geneeskd. 1998;142:1388-1392
-
(1998)
Ned Tijdschr Geneeskd
, vol.142
, pp. 1388-1392
-
-
Willemsen, M.A.1
Jira, P.E.2
Gabreels, F.J.3
Van der Ploeg, A.T.4
Smeitink, J.A.5
-
95
-
-
0003961841
-
Endocardial fibroelastosis associated with generalized glycogenosis
-
Wilson RA, Clark N. Endocardial fibroelastosis associated with generalized glycogenosis. Pediatrics. 1960;26:86-96
-
(1960)
Pediatrics
, vol.26
, pp. 86-96
-
-
Wilson, R.A.1
Clark, N.2
-
96
-
-
0041689443
-
Beitrag zur Morphologie und chemie der glykogenspeicherkrankheiten
-
Wolf K. XIV. Beitrag zur Morphologie und chemie der glykogenspeicherkrankheiten. Beitr Pathol Anat. 1936;96:289-306
-
(1936)
Beitr Pathol Anat
, vol.96
, pp. 289-306
-
-
Wolf K. XIV1
-
98
-
-
0029384345
-
Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
-
Kroos MA, Van der Kraan M, Van Diggelen OP, et al. Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients [letter] [see comments]. J Med Genet. 1995;32:836-837
-
(1995)
J Med Genet
, vol.32
, pp. 836-837
-
-
Kroos, M.A.1
Van der Kraan, M.2
Van Diggelen, O.P.3
-
99
-
-
0028960133
-
Identification of a de novo point mutation resulting in infantile form of Pompe's disease
-
published erratum appears in Biochem Biophys Res Commun 1995 Aug 4;213:367
-
Lin CY, Shieh JJ. Identification of a de novo point mutation resulting in infantile form of Pompe's disease [published erratum appears in Biochem Biophys Res Commun 1995 Aug 4;213:367]. Biochem Biophys Res Commun. 1995;208:886-893
-
(1995)
Biochem Biophys Res Commun
, vol.208
, pp. 886-893
-
-
Lin, C.Y.1
Shieh, J.J.2
-
100
-
-
0029062275
-
Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
-
Raben N, Nichols RC, Boerkoel C, Plotz P. Genetic defects in patients with glycogenosis type II (acid maltase deficiency). Muscle Nerve. 1995;3:S70-S74
-
(1995)
Muscle Nerve
, vol.3
-
-
Raben, N.1
Nichols, R.C.2
Boerkoel, C.3
Plotz, P.4
-
101
-
-
0031746688
-
Glycogen storage disease type 11: Identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene
-
Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM. Glycogen storage disease type 11: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene. Clin Genet. 1998;53:379-382
-
(1998)
Clin Genet
, vol.53
, pp. 379-382
-
-
Kroos, M.A.1
Van Leenen, D.2
Verbiest, J.3
Reuser, A.J.4
Hermans, M.M.5
-
102
-
-
0033909713
-
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II
-
Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M. Evidence for a founder effect in Sicilian patients with glycogen storage disease type II. Hum Hered. 2000;50:331-333
-
(2000)
Hum Hered
, vol.50
, pp. 331-333
-
-
Dagnino, F.1
Stroppiano, M.2
Regis, S.3
Bonuccelli, G.4
Filocamo, M.5
-
104
-
-
0021238722
-
Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops
-
Atkin J, Snow JW Jr, Zellweger H, Rhead WJ. Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops [letter]. Eur J Pediatr. 1984;142:150
-
(1984)
Eur J Pediatr
, vol.142
, pp. 150
-
-
Atkin, J.1
Snow J.W., Jr.2
Zellweger, H.3
Rhead, W.J.4
-
106
-
-
0028217853
-
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
-
Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Mol Genet. 1994;3:1081-1087
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1081-1087
-
-
Huie, M.L.1
Chen, A.S.2
Brooks, S.S.3
Grix, A.4
Hirschhorn, R.5
-
107
-
-
35848953255
-
Idiopathische hypertrophic van het hart, diffuse rhabdomyomatose en glycogeenzickte
-
Mansens BJ. Idiopathische hypertrophic van het hart, diffuse rhabdomyomatose en glycogeenzickte. Maandschr Kindergeneeskd. 1937;6:244-251
-
(1937)
Maandschr Kindergeneeskd
, vol.6
, pp. 244-251
-
-
Mansens, B.J.1
-
108
-
-
0043192359
-
Pompe's disease of the heart
-
Bloom KP, Hug G, Schubert WK, Kaplan S. Pompe's disease of the heart. Circulation. 1974;49, 50(Suppl III):III-56
-
(1974)
Circulation
, vol.49
, Issue.50 SUPPL. 3
, pp. 3-56
-
-
Bloom, K.P.1
Hug, G.2
Schubert, W.K.3
Kaplan, S.4
-
109
-
-
0030803880
-
Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans
-
Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N. Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans. Hum Mutat. 1997;10:128-134
-
(1997)
Hum Mutat
, vol.10
, pp. 128-134
-
-
Adams, E.M.1
Becker, J.A.2
Griffith, L.3
Segal, A.4
Plotz, P.H.5
Raben, N.6
-
110
-
-
0028557942
-
The effect of a single base pair deletion (δ T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
-
Hermans MM, De Graaff E, Kroos MA, et al. The effect of a single base pair deletion (δ T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II. Hum. Mol Genet. 1994;3:2213-2218
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2213-2218
-
-
Hermans, M.M.1
De Graaff, E.2
Kroos, M.A.3
-
111
-
-
4243984430
-
Identification of a deletion common to adult and infantile onset acid α-glucosidase deficiency
-
Boerkoel C, Raben N, Martiniuk F, Miller F, Plotz P. Identification of a deletion common to adult and infantile onset acid α-glucosidase deficiency. Am J Hum Genet. 1992;51:(Suppl):1153-1164
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 1153-1164
-
-
Boerkoel, C.1
Raben, N.2
Martiniuk, F.3
Miller, F.4
Plotz, P.5
|