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Volumn 37, Issue 6, 2012, Pages 598-611

Genetics and metabolic cardiomyopathies

Author keywords

Cardiomyopathy; Genetics; Inborn errors; Metabolism

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; CARNITINE; CHOLESTEROL; FATTY ACID; GLYCOGEN; GLYCOPROTEIN;

EID: 84867753094     PISSN: 03409937     EISSN: 16156692     Source Type: Journal    
DOI: 10.1007/s00059-012-3659-0     Document Type: Review
Times cited : (25)

References (68)
  • 1
    • 35348824321 scopus 로고    scopus 로고
    • Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy
    • Cox GF (2007) Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 24(1):15-25
    • (2007) Prog Pediatr Cardiol , vol.24 , Issue.1 , pp. 15-25
    • Cox, G.F.1
  • 2
    • 21244492310 scopus 로고    scopus 로고
    • Myocardial substrate metabolism in the normal and failing heart
    • Stanley WC, Recchia FA, Lopaschuk GD (2005) Myocardial substrate metabolism in the normal and failing heart. Physiol Rev 85(3):1093-1129
    • (2005) Physiol Rev , vol.85 , Issue.3 , pp. 1093-1129
    • Stanley, W.C.1    Recchia, F.A.2    Lopaschuk, G.D.3
  • 4
    • 2142765298 scopus 로고    scopus 로고
    • X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
    • Barth PG, et al. (Part A)
    • Barth PG, et al. (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 126A(4):349-354 (Part A)
    • (2004) Am J Med Genet , vol.126 , Issue.4 , pp. 349-354
  • 5
    • 43249124728 scopus 로고    scopus 로고
    • Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy
    • Breunig F, Wanner C (2008) Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 21(1):32-37
    • (2008) J Nephrol , vol.21 , Issue.1 , pp. 32-37
    • Breunig, F.1    Wanner, C.2
  • 6
    • 17044440789 scopus 로고    scopus 로고
    • Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    • Nishino I, et al. (2000) Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406(6798):906-910
    • (2000) Nature , vol.406 , Issue.6798 , pp. 906-910
    • Nishino, I.1
  • 7
    • 0033819252 scopus 로고    scopus 로고
    • Liver disease in pregnancy and fetal fatty acid oxidation defects
    • Ibdah JA, Yang Z, Bennett MJ (2000) Liver disease in pregnancy and fetal fatty acid oxidation defects. Mol Genet Metab 71(1-2):182-189
    • (2000) Mol Genet Metab , vol.71 , Issue.1-2 , pp. 182-189
    • Ibdah, J.A.1    Yang, Z.2    Bennett, M.J.3
  • 8
    • 0033004986 scopus 로고    scopus 로고
    • Recognition and management of fatty acid oxidation defects: A series of 107 patients
    • Saudubray JM, et al. (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22(4):488-502
    • (1999) J Inherit Metab Dis , vol.22 , Issue.4 , pp. 488-502
    • Saudubray, J.M.1
  • 9
    • 34547809952 scopus 로고    scopus 로고
    • ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, et al. (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130(Pt 8):2045-2054
    • (2007) Brain , vol.130 , Issue.PART 8 , pp. 2045-2054
    • Olsen, R.K.1
  • 10
    • 0036071008 scopus 로고    scopus 로고
    • Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
    • Roe CR, et al. (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110(2):259-269
    • (2002) J Clin Invest , vol.110 , Issue.2 , pp. 259-269
    • Roe, C.R.1
  • 11
    • 4444307033 scopus 로고    scopus 로고
    • Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects
    • Bonnefont JP, et al. (2004) Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 25(5-6):495-520
    • (2004) Mol Aspects Med , vol.25 , Issue.5-6 , pp. 495-520
    • Bonnefont, J.P.1
  • 12
    • 0038042481 scopus 로고    scopus 로고
    • Carnitine transport: Pathophysiology and metabolism of known molecular defects
    • Tein I (2003) Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis 26(2-3):147-169
    • (2003) J Inherit Metab Dis , vol.26 , Issue.2-3 , pp. 147-169
    • Tein, I.1
  • 13
    • 14644425217 scopus 로고    scopus 로고
    • Mitochondrial energy metabolism in heart failure: A question of balance
    • Huss JM, Kelly DP (2005) Mitochondrial energy metabolism in heart failure: a question of balance. J Clin Invest 115(3):547-555
    • (2005) J Clin Invest , vol.115 , Issue.3 , pp. 547-555
    • Huss, J.M.1    Kelly, D.P.2
  • 15
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
    • Anan R, et al. (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91(4):955-961
    • (1995) Circulation , vol.91 , Issue.4 , pp. 955-961
    • Anan, R.1
  • 16
    • 0037319721 scopus 로고    scopus 로고
    • Cardiomyopathy in children with mitochondrial disease; Clinical course and cardiological findings
    • Holmgren D, et al. (2003) Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. Eur Heart J 24(3):280-288
    • (2003) Eur Heart J , vol.24 , Issue.3 , pp. 280-288
    • Holmgren, D.1
  • 17
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia F, et al. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114(4):925-931
    • (2004) Pediatrics , vol.114 , Issue.4 , pp. 925-931
    • Scaglia, F.1
  • 18
    • 0036996004 scopus 로고    scopus 로고
    • Allogeneic hematopoietic cell transplantation for inborn metabolic diseases
    • Yeager AM (2002) Allogeneic hematopoietic cell transplantation for inborn metabolic diseases. Ann Hematol 81(Suppl 2):16-19
    • (2002) Ann Hematol , vol.81 , Issue.SUPPL. 2 , pp. 16-19
    • Yeager, A.M.1
  • 19
    • 36849009197 scopus 로고    scopus 로고
    • Treatment of lysosomal storage disorders: Progress with enzyme replacement therapy
    • Rohrbach M, Clarke JT (2007) Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs 67(18):2697-2716
    • (2007) Drugs , vol.67 , Issue.18 , pp. 2697-2716
    • Rohrbach, M.1    Clarke, J.T.2
  • 20
    • 0033982248 scopus 로고    scopus 로고
    • The molecular basis of lysosomal storage diseases and their treatment
    • Winchester B, Vellodi A, Young E (2000) The molecular basis of lysosomal storage diseases and their treatment. Biochem Soc Trans 28(2):150-154
    • (2000) Biochem Soc Trans , vol.28 , Issue.2 , pp. 150-154
    • Winchester, B.1    Vellodi, A.2    Young, E.3
  • 21
    • 0038777078 scopus 로고    scopus 로고
    • Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders
    • Butters TD, et al. (2003) Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Philos Trans R Soc B-Biol Sci 358(1433):927-945
    • (2003) Philos Trans R Soc B-Biol Sci , vol.358 , Issue.1433 , pp. 927-945
    • Butters, T.D.1
  • 22
    • 34748870681 scopus 로고    scopus 로고
    • Pharmacological chaperone therapy for lysosomal storage disorders - Leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins
    • Fan JQ (2007) Pharmacological chaperone therapy for lysosomal storage disorders - leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins. FEBS J 274(19):4943
    • (2007) FEBS J , vol.274 , Issue.19 , pp. 4943
    • Fan, J.Q.1
  • 23
    • 41349085850 scopus 로고    scopus 로고
    • Treatment perspectives for the lysosomal storage diseases
    • Grabowski GA (2008) Treatment perspectives for the lysosomal storage diseases. Expert Opin Emerg Drugs 13(1):197-211
    • (2008) Expert Opin Emerg Drugs , vol.13 , Issue.1 , pp. 197-211
    • Grabowski, G.A.1
  • 24
    • 0036345045 scopus 로고    scopus 로고
    • Cardiovascular changes in children with mucopolysaccharide disorders
    • Mohan UR, et al. (2002) Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 91(7):799-804
    • (2002) Acta Paediatr , vol.91 , Issue.7 , pp. 799-804
    • Mohan, U.R.1
  • 25
    • 0024365175 scopus 로고
    • Mucopolysaccharidosis i presenting with endocardial fibroelastosis of infancy
    • Stephan MJ, et al. (1989) Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. Am J Dis Child 143(7):782-784
    • (1989) Am J Dis Child , vol.143 , Issue.7 , pp. 782-784
    • Stephan, M.J.1
  • 26
    • 35448943425 scopus 로고    scopus 로고
    • Successful treatment of severe heart failure in an infant with Hurler syndrome
    • Hirth A, Berg A, Greve G (2007) Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis 30(5):820
    • (2007) J Inherit Metab Dis , vol.30 , Issue.5 , pp. 820
    • Hirth, A.1    Berg, A.2    Greve, G.3
  • 27
    • 35248839985 scopus 로고    scopus 로고
    • Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type i
    • Soliman OI, et al. (2007) Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis 30(5):750-757
    • (2007) J Inherit Metab Dis , vol.30 , Issue.5 , pp. 750-757
    • Soliman, O.I.1
  • 28
    • 17144399564 scopus 로고    scopus 로고
    • The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis i
    • Wraith JE (2005) The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6(3):489-506
    • (2005) Expert Opin Pharmacother , vol.6 , Issue.3 , pp. 489-506
    • Wraith, J.E.1
  • 29
    • 33745943855 scopus 로고    scopus 로고
    • Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type i
    • Braunlin EA, Berry JM, Whitley CB (2006) Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 98(3):416-418
    • (2006) Am J Cardiol , vol.98 , Issue.3 , pp. 416-418
    • Braunlin, E.A.1    Berry, J.M.2    Whitley, C.B.3
  • 30
    • 34547682071 scopus 로고    scopus 로고
    • Management guidelines for mucopolysaccharidosis VI
    • Giugliani R, Harmatz P, Wraith JE (2007) Management guidelines for mucopolysaccharidosis VI. Pediatrics 120(2):405-418
    • (2007) Pediatrics , vol.120 , Issue.2 , pp. 405-418
    • Giugliani, R.1    Harmatz, P.2    Wraith, J.E.3
  • 31
    • 39149118050 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
    • Wraith JE, et al. (2008) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167(3):267-277
    • (2008) Eur J Pediatr , vol.167 , Issue.3 , pp. 267-277
    • Wraith, J.E.1
  • 32
    • 0033913816 scopus 로고    scopus 로고
    • Sudden death in Hunter syndrome caused by complete atrioventricular block
    • Hishitani T, et al. (2000) Sudden death in Hunter syndrome caused by complete atrioventricular block. J Pediatr 136(2):268-269
    • (2000) J Pediatr , vol.136 , Issue.2 , pp. 268-269
    • Hishitani, T.1
  • 33
    • 0027528999 scopus 로고
    • Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)
    • Muenzer J, et al. (1993) Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Pediatr Cardiol 14(2):130-132
    • (1993) Pediatr Cardiol , vol.14 , Issue.2 , pp. 130-132
    • Muenzer, J.1
  • 34
    • 43149098040 scopus 로고    scopus 로고
    • Sanfilippo syndrome: A mini-review
    • Valstar MJ, et al. (2008) Sanfilippo syndrome: a mini-review. J Inherit Metab Dis
    • (2008) J Inherit Metab Dis
    • Valstar, M.J.1
  • 35
    • 0035005865 scopus 로고    scopus 로고
    • Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation
    • George R, et al. (2001) Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet 59(5):360-363
    • (2001) Clin Genet , vol.59 , Issue.5 , pp. 360-363
    • George, R.1
  • 36
    • 41149100107 scopus 로고    scopus 로고
    • Cardiac manifestations of Anderson-Fabry disease in children and adolescents
    • Kampmann C, et al. (2008) Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 97(4):463-469
    • (2008) Acta Paediatr , vol.97 , Issue.4 , pp. 463-469
    • Kampmann, C.1
  • 37
    • 34247327312 scopus 로고    scopus 로고
    • The heart in Anderson-Fabry disease and other lysosomal storage disorders
    • Linhart A, Elliott PM (2007) The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93(4):528-535
    • (2007) Heart , vol.93 , Issue.4 , pp. 528-535
    • Linhart, A.1    Elliott, P.M.2
  • 38
    • 38749130497 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
    • Hughes DA, et al. (2008) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94(2):153-158
    • (2008) Heart , vol.94 , Issue.2 , pp. 153-158
    • Hughes, D.A.1
  • 39
    • 35548953223 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders
    • Grunewald S (2007) Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders. Early Hum Dev 83(12):825-830
    • (2007) Early Hum Dev , vol.83 , Issue.12 , pp. 825-830
    • Grunewald, S.1
  • 40
    • 0031056983 scopus 로고    scopus 로고
    • Cardiovascular malformations in Smith-Lemli-Opitz syndrome
    • Lin AE, et al. (1997) Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med Genet 68(3):270-278
    • (1997) Am J Med Genet , vol.68 , Issue.3 , pp. 270-278
    • Lin, A.E.1
  • 41
    • 35248882500 scopus 로고    scopus 로고
    • Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
    • Kollberg G, et al. (2007) Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med 357(15):1507-1514
    • (2007) N Engl J Med , vol.357 , Issue.15 , pp. 1507-1514
    • Kollberg, G.1
  • 42
    • 0033067986 scopus 로고    scopus 로고
    • Infantile hypertrophic cardiomyopathy of glycogenosis type IX: Isolated cardiac phosphorylase kinase deficiency
    • Regalado JJ, Rodriguez MM, Ferrer PL (1999) Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 20(4):304-307
    • (1999) Pediatr Cardiol , vol.20 , Issue.4 , pp. 304-307
    • Regalado, J.J.1    Rodriguez, M.M.2    Ferrer, P.L.3
  • 43
    • 9144269702 scopus 로고    scopus 로고
    • Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
    • Hermans MM, et al. (2004) Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat 23(1):47-56
    • (2004) Hum Mutat , vol.23 , Issue.1 , pp. 47-56
    • Hermans, M.M.1
  • 44
    • 38949192583 scopus 로고    scopus 로고
    • Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
    • Winchester B, et al. (2008) Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 93(3):275-281
    • (2008) Mol Genet Metab , vol.93 , Issue.3 , pp. 275-281
    • Winchester, B.1
  • 45
    • 33745634913 scopus 로고    scopus 로고
    • Electrocardiographic response to enzyme replacement therapy for Pompe disease
    • Ansong AK, et al. (2006) Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 8(5):297-301
    • (2006) Genet Med , vol.8 , Issue.5 , pp. 297-301
    • Ansong, A.K.1
  • 46
    • 33846033132 scopus 로고    scopus 로고
    • Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease
    • Kishnani PS, et al. (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68(2):99-109
    • (2007) Neurology , vol.68 , Issue.2 , pp. 99-109
    • Kishnani, P.S.1
  • 47
    • 0019378026 scopus 로고
    • Lysosomal glycogen storage disease with normal acid maltase
    • Danon MJ, et al. (1981) Lysosomal glycogen storage disease with normal acid maltase. Neurology 31(1):51-57
    • (1981) Neurology , vol.31 , Issue.1 , pp. 51-57
    • Danon, M.J.1
  • 48
    • 42249106388 scopus 로고    scopus 로고
    • Extension of the clinical spectrum of Danon disease
    • Kooi AJ van der, et al. (2008) Extension of the clinical spectrum of Danon disease. Neurology 70(16):1358-1359
    • (2008) Neurology , vol.70 , Issue.16 , pp. 1358-1359
    • Van Der Kooi, A.J.1
  • 49
    • 0036079985 scopus 로고    scopus 로고
    • Molecular characterization of glycogen storage disease type III
    • Shen JJ, Chen YT (2002) Molecular characterization of glycogen storage disease type III. Curr Mol Med 2(2):167-175
    • (2002) Curr Mol Med , vol.2 , Issue.2 , pp. 167-175
    • Shen, J.J.1    Chen, Y.T.2
  • 50
    • 0027181382 scopus 로고
    • Cardiomyopathy of glycogen storage disease type III
    • Carvalho JS, et al. (1993) Cardiomyopathy of glycogen storage disease type III. Heart Vessels 8(3):155-159
    • (1993) Heart Vessels , vol.8 , Issue.3 , pp. 155-159
    • Carvalho, J.S.1
  • 51
    • 4244159604 scopus 로고    scopus 로고
    • Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III
    • Moon JC, et al. (2003) Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III. Circulation 107(7):e47
    • (2003) Circulation , vol.107 , Issue.7
    • Moon, J.C.1
  • 52
    • 0036082990 scopus 로고    scopus 로고
    • The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies
    • Moses SW, Parvari R (2002) The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2(2):177-188
    • (2002) Curr Mol Med , vol.2 , Issue.2 , pp. 177-188
    • Moses, S.W.1    Parvari, R.2
  • 53
    • 0032716152 scopus 로고    scopus 로고
    • Glycogenosis type IV as a seldom cause of cardiomyopathy - Report about a successful heart transplantation
    • Ewert R, et al. (1999) Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation. Z Kardiol 88(10):850-856
    • (1999) Z Kardiol , vol.88 , Issue.10 , pp. 850-856
    • Ewert, R.1
  • 54
    • 0036167225 scopus 로고    scopus 로고
    • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    • Arad M, et al. (2002) Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109(3):357-362
    • (2002) J Clin Invest , vol.109 , Issue.3 , pp. 357-362
    • Arad, M.1
  • 55
    • 20044391423 scopus 로고    scopus 로고
    • Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: Natural history
    • Murphy RT, et al. (2005) Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol 45(6):922-930
    • (2005) J Am Coll Cardiol , vol.45 , Issue.6 , pp. 922-930
    • Murphy, R.T.1
  • 56
    • 1442324783 scopus 로고    scopus 로고
    • Review: Metabolic cardiomyopathy and conduction system defects in children
    • Gilbert-Barness E (2004) Review: metabolic cardiomyopathy and conduction system defects in children. Ann Clin Lab Sci 34(1):15-34
    • (2004) Ann Clin Lab Sci , vol.34 , Issue.1 , pp. 15-34
    • Gilbert-Barness, E.1
  • 57
    • 0025270798 scopus 로고
    • GM1 gangliosidosis and dilated cardiomyopathy
    • Simma B, Sperl W, Hammerer I (1990) GM1 gangliosidosis and dilated cardiomyopathy. Klin Padiatr 202(3):183-185
    • (1990) Klin Padiatr , vol.202 , Issue.3 , pp. 183-185
    • Simma, B.1    Sperl, W.2    Hammerer, I.3
  • 58
    • 0034035151 scopus 로고    scopus 로고
    • Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
    • Morrone A, et al. (2000) beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat 15(4):354-366
    • (2000) Hum Mutat , vol.15 , Issue.4 , pp. 354-366
    • Morrone, A.1
  • 59
    • 26844488585 scopus 로고    scopus 로고
    • Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome
    • Bhattacharya K, Gibson SC, Pathi VL (2005) Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome. Ann Thorac Surg 80(5):1911-1912
    • (2005) Ann Thorac Surg , vol.80 , Issue.5 , pp. 1911-1912
    • Bhattacharya, K.1    Gibson, S.C.2    Pathi, V.L.3
  • 60
    • 33749539646 scopus 로고    scopus 로고
    • Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review
    • Barshes NR, et al. (2006) Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant 10(7):773-781
    • (2006) Pediatr Transplant , vol.10 , Issue.7 , pp. 773-781
    • Barshes, N.R.1
  • 61
    • 0036432303 scopus 로고    scopus 로고
    • Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
    • Cederbaum SD, et al. (2002) Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab 77(3):195-201
    • (2002) Mol Genet Metab , vol.77 , Issue.3 , pp. 195-201
    • Cederbaum, S.D.1
  • 62
    • 0030688009 scopus 로고    scopus 로고
    • Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
    • Chalmers RA, et al. (1997) Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 131(2):220-225
    • (1997) J Pediatr , vol.131 , Issue.2 , pp. 220-225
    • Chalmers, R.A.1
  • 63
    • 35448982613 scopus 로고    scopus 로고
    • Prospective treatment in carnitine-acylcarnitine translocase deficiency
    • Pierre G, et al. (2007) Prospective treatment in carnitine-acylcarnitine translocase deficiency. J Inherit Metab Dis 30(5):815
    • (2007) J Inherit Metab Dis , vol.30 , Issue.5 , pp. 815
    • Pierre, G.1
  • 65
    • 0037125581 scopus 로고    scopus 로고
    • Cardiac arrest in a young marathon runner
    • Ratliff NB, et al. (2002) Cardiac arrest in a young marathon runner. Lancet 360(9332):542
    • (2002) Lancet , vol.360 , Issue.9332 , pp. 542
    • Ratliff, N.B.1
  • 66
    • 0141788824 scopus 로고    scopus 로고
    • Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate
    • Djouadi F, et al. (2003) Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate. Pediatr Res 54(4):446-451
    • (2003) Pediatr Res , vol.54 , Issue.4 , pp. 446-451
    • Djouadi, F.1
  • 67
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxireductase:glutaric aciduria type II
    • Scriver, Beaudet, et al. (eds) 8th edn. McGraw-Hill
    • Frerman FE, Goodman S (2001) Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxireductase:glutaric aciduria type II. In: Scriver, Beaudet, et al. (eds) The metabolic and molecular baisi of inherited disease. 8th edn. McGraw-Hill, pp 2357-2365
    • (2001) The Metabolic and Molecular Baisi of Inherited Disease , pp. 2357-2365
    • Frerman, F.E.1    Goodman, S.2
  • 68
    • 0242348802 scopus 로고    scopus 로고
    • D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)
    • Van Hove JL, et al. (2003) D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet 361(9367):1433-1435
    • (2003) Lancet , vol.361 , Issue.9367 , pp. 1433-1435
    • Van Hove, J.L.1


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