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Volumn 112, Issue 2 I, 2003, Pages 332-340

The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature

Author keywords

glucosidase; Acid maltase; Enzyme replacement; Glycogen storage disease type II; Pompe's disease

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA GLUCOSIDASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; CREATINE KINASE MB; GLUCAN 1,4 ALPHA GLUCOSIDASE; LACTATE DEHYDROGENASE;

EID: 0042131675     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.112.2.332     Document Type: Article
Times cited : (457)

References (111)
  • 1
    • 0000995321 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 5
    • 0032848015 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 9
    • 0035746540 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 23
    • 0029797331 scopus 로고    scopus 로고
    • 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
  • 24
  • 25
    • 0019166964 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 29
    • 0042190159 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 57
    • 0014089729 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 72
    • 0014734675 scopus 로고
    • Generalized glycogenosis type II (Pompe's disease)
    • Nihill MR, Wilson DS, Hugh-Jones K. Generalized glycogenosis type II (Pompe's disease). Arch Dis Child. 1970;45:122-129
    • (1970) Arch Dis Child , vol.45 , pp. 122-129
    • Nihill, M.R.1    Wilson, D.S.2    Hugh-Jones, K.3
  • 73
    • 0000314638 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 82
    • 0041689447 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 87
  • 88
    • 0022970404 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • Glycogen disease
    • Van Creveld S. Glycogen disease. Medicine. 1939;1:1
    • (1939) Medicine , vol.1 , pp. 1
    • Van Creveld, S.1
  • 91
    • 0026347663 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 95
    • 0003961841 scopus 로고
    • 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 scopus 로고
    • 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
  • 97
  • 98
    • 0029384345 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 109
    • 0030803880 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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


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