Metabolic basis of pediatric heart disease

Progress in Pediatric Cardiology

Volumn 20, Issue 2, 2005, Pages 143-159

  Exil, Vernat J ^a   Summar, Marshall ^b   Boles, Mary Alyson ^a   Atkinson, James ^c   Johns, James A ^a   Matern, Dietrich ^d   Strauss, Arnold W ^a   Canter, Charles E ^e  

^a MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d Mayo Clinic   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiomyopathy; Inborn errors of metabolism: newborn screening; Sudden infant death syndrome (SIDS)

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; DIGOXIN; DIURETIC AGENT; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL DNA;

BARTH SYNDROME; BONE MARROW TRANSPLANTATION; CARDIOMYOPATHY; ENZYME REPLACEMENT; FABRY DISEASE; FATTY ACID OXIDATION; GAUCHER DISEASE; GENE DELETION; GENE THERAPY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOSYLATION; HEART DISEASE; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; NEWBORN SCREENING; PATIENT COUNSELING; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; SIDE EFFECT; STEM CELL TRANSPLANTATION; SUDDEN INFANT DEATH SYNDROME; SURVIVAL TIME; SYSTOLIC BLOOD PRESSURE; TREATMENT OUTCOME;

EID: 21744432181     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2005.04.005     Document Type: Article

References (121)

1. S.E. Lipshultz, L.A. Sleeper, and J.A. Towbin The incidence of pediatric cardiomyopathy in two regions of the United States N Engl J Med 348 17 2003 1647 1655
2. A.W. Nugent, P.E.F. Daubeney, and P. Chondros The epidemiology of childhood cardiomyopathy in Australia N Engl J Med 348 17 2003 1639 1646
3. A. Arola, E. Jokinen, and O. Ruuskanen Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland Am J Epidemiol 146 5 1997 385 393
4. M.A. Grenier, S.K. Osganian, and G.F. Cox Design and implementation of the North American Pediatric Cardiomyopathy Registry Am Heart J 139 2000 S86 S95
5. A. Pereira, E. Martins, C. Carvalho, and S. Alvares Cardiac involvement in metabolic diseases Rev Port Cardiol 18 1 1999 53 57
6. A. Strauss, and J.E. Lock Pediatric cardiomyopathy-a long way to go N Engl J Med 348 17 2003 1703 1705
7. D. Lev, A. Nissenkorn, and E. Leshinsky-Silver Clinical presentations of mitochondrial cardiomyopathies Pediatr Cardiol 5 2004 443 450
8. R. Laschi, E. Govoni, G. Cenacchi, B. Magnani, G. Binetti, and F. Tartagni Primary metabolic cardiomyopathy mimicking an ischemic heart disease Ultrastruct Pathol 10 5 1986 387 394
9. P.M. Hoogerbrugge, O.F. Brouwer, and P. Bordigoni Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation Lancet 345 8962 1995 1398 1402
10. L. Edelmann, J. Dong, R.J. Desnick, and R. Kornreich Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population Am J Hum Genet 70 4 2002 1023 1027
11. P.K. Mistry Gaucher's disease: a model for modern management of a genetic disease J Hepatol 30 Suppl 1 1999 1 5
12. M.R. Natowicz, and E.M. Prence Heterozygote screening for Tay-Sachs disease: past successes and future challenges Curr Opin Pediatr 8 6 1996 625 629
13. G. Beer, P. Reinecke, H.E. Gabbert, W. Hort, and H. Kuhn Fabry disease in patients with hypertrophic cardiomyopathy (HCM) Z Kardiol 91 12 2002 992 1002
14. P. de Lonlay, V. Cormier-Daire, and S. Vuillaumier-Barrot Carbohydrate-deficient blood glycoprotein syndrome Arch Pediatr 7 2 2000 173 184
15. J. Kusa, A. Pyrkosz, A. Skiba, and M. Szkutnik Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome Pediatr Cardiol 24 5 2003 493 494
16. P.T. Clayton, B.G. Winchester, and G. Keir Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome J Inherit Metab Dis 15 6 1992 857 861
17. J. Gehrmann, K. Sohlbach, and M. Linnebank Cardiomyopathy in congenital disorders of glycosylation Cardiol Young 13 4 2003 345 351
18. M.T. Garcia Silva, J. de Castro, and H. Stibler Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome J Inherit Metab Dis 19 2 1996 257 259
19. B.J. Feldman, and D. Rosenthal Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid Pediatr Cardiol 23 4 2002 469 471
20. G. Hug Glycogen storage diseases Birth Defects Orig Artic Ser 12 6 1976 145 175
21. Y.T. Chen Glycogen storage diseases C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler The metabolic and molecular bases of inherited disease 2001 McGraw Hill New York 1521 1551
22. P.S. Kishnani, and R.R. Howell Pompe disease in infants and children J Pediatr 144 5 Suppl. 2004 S35 S43
23. M.G. Ausems, P. Lochman, O.P. van Diggelen, H.K. Ploos van Amstel, A.J. Reuser, and J.H. Wokke A diagnostic protocol for adult-onset glycogen storage disease type II Neurology 52 4 1999 851 853
24. J. Horvath, U.P. Ketelsen, and A. Geibel-Zehender Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease Neuropediatrics 34 5 2003 270 273
25. D. Kaneda, K. Sugie, and A. Yamamoto A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement Neurology 61 1 2003 128 131
26. S.K. Tay, H.O. Akman, and W.K. Chung Fatal infantile neuromuscular presentation of glycogen storage disease type IV Neuromuscul Disord 14 4 2004 253 260
27. M. Nambu, K. Kawabe, and T. Fukuda A neonatal form of glycogen storage disease type IV Neurology 61 3 2003 392 394
28. D.C. Wallace Mitochondrial disease in man and mouse Science 283 5407 1999 1482 1488
29. A.E. Harding, and I.J. Holt Mitochondrial myopathies Br Med Bull 45 3 1989 760 771
30. P.J. Lamont, R. Surtees, C.E. Woodward, J.V. Leonard, N.W. Wood, and A.E. Harding Clinical and laboratory findings in referrals for mitochondrial DNA analysis Arch Dis Child 79 1 1998 22 27
31. M.H. Tulinius, E. Holme, B. Kristiansson, N.G. Larsson, and A. Oldfors Mitochondrial encephalomyopathies in childhood: II. Clinical manifestations and syndromes J Pediatr 119 2 1991 251 259
32. C. Marsac, F. Degoul, and G. Bonne Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy Rev Neurol (Paris) 147 6-7 1991 462 466
33. I.J. Holt, A.E. Harding, and J.M. Cooper Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA Ann Neurol 26 6 1989 699 708
34. I.J. Holt, A.E. Harding, and J.A. Morgan-Hughes Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature 331 6158 1988 717 719
35. P. Lestienne, and G. Ponsot Kearns-Sayre syndrome with muscle mitochondrial DNA deletion Lancet 1 8590 1988 885
36. C.T. Moraes, S. DiMauro, and M. Zeviani Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome N Engl J Med 320 20 1989 1293 1299
37. S. Mita, B. Schmidt, E.A. Schon, S. DiMauro, and E. Bonilla Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome Proc Natl Acad Sci U S A 86 23 1989 9509 9513
38. C.T. Moraes, E.A. Schon, S. DiMauro, and A.F. Miranda Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome Biochem Biophys Res Commun 160 2 1989 765 771
39. I. Nelson, F. Degoul, and B. Obermaier-Kusser Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome Nucleic Acids Res 17 20 1989 8117 8124
40. I. Nelson, L. d'Auriol, F. Galibert, G. Ponsot, and P. Lestienne Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome C R Acad Sci III 309 10 1989 403 407
41. E.A. Schon, R. Rizzuto, C.T. Moraes, H. Nakase, M. Zeviani, and S. DiMauro A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA Science 244 4902 1989 346 349
42. J.M. Shoffner, M.T. Lott, A.S. Voljavec, S.A. Soueidan, D.A. Costigan, and D.C. Wallace Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy Proc Natl Acad Sci U S A 86 20 1989 7952 7956
43. K.D. Gerbitz, B. Obermaier-Kusser, and P. Lestienne Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies J Clin Chem Clin Biochem 28 4 1990 241 250
44. M. Brockington, N. Alsanjari, M.G. Sweeney, J.A. Morgan-Hughes, F. Scaravilli, and A.E. Harding Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study J Neurol Sci 131 1 1995 78 87
45. L. Eviatar, S. Shanske, and B. Gauthier Kearns-Sayre syndrome presenting as renal tubular acidosis Neurology 40 11 1990 1761 1763
46. Y. Ota, S. Awaya, and M. Tanaka Detection of deletions in platelet mitochondrial DNA in Kearns-Sayre syndrome using polymerase chain reaction Nippon Ganka Gakkai Zasshi 95 8 1991 776 782
47. Y. Ota, M. Tanaka, and W. Sato Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome Invest Ophthalmol Vis Sci 32 10 1991 2667 2675
48. K.D. Gerbitz, B. Obermaier-Kusser, S. Zierz, D. Pongratz, J. Muller-Hocker, and P. Lestienne Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes J Neurol 237 1 1990 5 10
49. A.G. Lee, and P.W. Brazis Chronic progressive external ophthalmoplegia Curr Neurol Neurosci Rep 2 5 2002 413 417
50. J. Marin-Garcia, M.J. Goldenthal, and J.J. Filiano Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype J Child Neurol 17 10 2002 759 765
51. J. Marin-Garcia, M.J. Goldenthal, L. Flores-Sarnat, and H.B. Sarnat Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions Pediatr Neurol 27 3 2002 213 216
52. C. Tranchant, B. Mousson, and M. Mohr Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion Neuromuscul Disord 3 5-6 1993 561 566
53. P.G. Barth, H.R. Scholte, and J.A. Berden An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes J Neurol Sci 62 1-3 1983 327 355
54. A.M. Cantlay, K. Shokrollahi, J.T. Allen, P.W. Lunt, R.A. Newbury-Ecob, and C.G. Steward Genetic analysis of the G4.5 gene in families with suspected Barth syndrome J Pediatr 135 3 1999 311 315
55. L.C. Ades, A.K. Gedeon, and M.J. Wilson Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28 Am J Med Genet 45 3 1993 327 334
56. J. Christodoulou, R.R. McInnes, and V. Jay Barth syndrome: clinical observations and genetic linkage studies Am J Med Genet 50 3 1994 255 264
57. P.A. Bolhuis, G.W. Hensels, T.J. Hulsebos, F. Baas, and P.G. Barth Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 Am J Hum Genet 48 3 1991 481 485
58. S. Bione, P. D'Adamo, E. Maestrini, A.K. Gedeon, P.A. Bolhuis, and D. Toniolo A novel X-linked gene, G4.5 is responsible for Barth syndrome Nat Genet 12 4 1996 385 389
59. P. Vreken, F. Valianpour, and L.G. Nijtmans Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome Biochem Biophys Res Commun 279 2 2000 378 382
60. J.B. McMillin, and W. Dowhan Cardiolipin and apoptosis Biochim Biophys Acta 1585 2-3 2002 97 107
61. G.M. Hatch Cell biology of cardiac mitochondrial phospholipids Biochem Cell Biol 82 1 2004 99 112
62. F. Valianpour, R.J. Wanders, and H. Overmars Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts J Pediatr 141 5 2002 729 733
63. F. Valianpour, R.J. Wanders, P.G. Barth, H. Overmars, and A.H. van Gennip Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients Clin Chem 48 9 2002 1390 1397
64. S.B. Bleyl, B.R. Mumford, and V. Thompson Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome Am J Hum Genet 61 4 1997 868 872
65. R. Chen, T. Tsuji, and F. Ichida Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction Mol Genet Metab 77 4 2002 319 325
66. S.S. Adwani, B.F. Whitehead, and P.G. Rees Heart transplantation for Barth syndrome Pediatr Cardiol 18 2 1997 143 145
67. M.D. Ronghe, A.B. Foot, R. Martin, M. Ashworth, and C.G. Steward Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome Acta Paediatr 90 5 2001 584 586
68. F. Scaglia, A.E. Scheuerle, J.A. Towbin, D.L. Armstrong, L. Sweetman, and L.J. Wong Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism BMC Pediatr 2 1 2002 12
69. W.R. Treem New developments in the pathophysiology, clinical spectrum, and diagnosis of disorders of fatty acid oxidation Curr Opin Pediatr 12 5 2000 463 468
70. P. Rinaldo, D. Matern, and M.J. Bennett Fatty acid oxidation disorders Annu Rev Physiol 64 2002 477 502
71. C.E. Garguilo, S.M. Stulsatz-Krouper, and J.E. Schaffer Localization of adipocyte long-chain fatty acyl-CoA synthase at the plasma membrane J Lipid Res 40 1999 881 892
72. J.P. Harpey, C. Charpentier, and M. Paturneau-Jouas Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation Biol Neonate 58 Suppl. 1 1990 70 80
73. J.P. Harpey, C. Charpentier, M. Coude, P. Divry, and M. Paturneau-Jouas Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency J Pediatr 110 6 1987 881 884
74. T. Hasegawa, N. Hori, and W. Du A case of impairment of mitochondrial fatty acid beta-oxidation Keio J Med 51 2 2002 100 106
75. F. Rocchiccioli, R.J. Wanders, and P. Aubourg Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood Pediatr Res 28 6 1990 657 662
76. M.J. Bennett, F. Allison, R.J. Pollitt, and S. Variend Fatty acid oxidation defects as causes of unexpected death in infancy Prog Clin Biol Res 321 1990 349 364
77. D. Bonnet, D. Martin, and L. De Pascale Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children Circulation 100 22 1999 2248 2253
78. M.T. Knabb, J.E. Saffitz, P.B. Corr, and B.E. Sobel The dependence of electrophysiological derangements on accumulation of endogenous long-chain acyl carnitine in hypoxic neonatal rat myocytes Circ Res 58 2 1986 230 240
79. P.B. Corr, M.H. Creer, K.A. Yamada, J.E. Saffitz, and B.E. Sobel Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation J Clin Invest 83 3 1989 927 936
80. S. Winter, K. Jue, and J. Prochazka The role of l-carnitine in pediatric cardiomyopathy J Child Neurol 10 Suppl. 2 1995 S45 S51
81. R.J. Egidio, G.L. Francis, P.M. Coates, D.E. Hale, and A. Roesel Medium-chain acyl-CoA dehydrogenase deficiency Am Fam Physician 39 5 1989 221 226
82. E.H. Touma, and C. Charpentier Medium chain acyl-CoA dehydrogenase deficiency Arch Dis Child 67 1 1992 142 145
83. T. Hegyi, B. Ostfeld, and K. Gardner Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS N J Med 89 5 1992 385 392
84. P.M. Kemp, B.B. Little, R.O. Bost, and D.B. Dawson Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency Am J Forensic Med Pathol 17 1 1996 79 82
85. M.J. Bennett, P. Rinaldo, D.S. Millington, K. Tanaka, I. Yokota, and P.M. Coates Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling Pediatr Pathol 11 6 1991 889 895
86. N. Gregersen, V. Winter, and P.K. Jensen Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood Prenat Diagn 15 1 1995 82 86
87. M.A. Nada, C. Vianey-Saban, and C.R. Roe Prenatal diagnosis of mitochondrial fatty acid oxidation defects Prenat Diagn 16 2 1996 117 124
88. B.S. Andresen, S. Olpin, and B.J. Poorthuis Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency Am J Hum Genet 64 2 1999 479 494
89. A. Mathur, H.F. Sims, and D. Gopalakrishnan Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death Circulation 99 10 1999 1337 1343
90. R. Pons, P. Cavadini, and S. Baratta Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency Pediatr Neurol 22 2 2000 98 105
91. A.W. Strauss, C.K. Powell, and D.E. Hale Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Proc Natl Acad Sci U S A 92 23 1995 10496 10500
92. M.C. Brown-Harrison, M.A. Nada, and H. Sprecher Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy Biochem Mol Med 58 1 1996 59 65
93. C. Vianey-Saban, P. Divry, and M. Brivet Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients Clin Chim Acta 269 1 1998 43 62
94. E.H. Touma, M.S. Rashed, and C. Vianey-Saban A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency Arch Dis Child 84 1 2001 58 60
95. U. Spiekerkoetter, B. Sun, Z. Khuchua, M.J. Bennett, and A.W. Strauss Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations Hum Mutat 21 6 2003 598 607
96. D. Matern, A.W. Strauss, S.L. Hillman, E. Mayatepek, D.S. Millington, and F.K. Trefz Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis Pediatr Res 46 1 1999 45 49
97. S.R. Hintz, D. Matern, and A. Strauss Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies Mol Genet Metab 75 2 2002 120 127
98. H.F. Sims, J.C. Brackett, and C.K. Powell The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy Proc Natl Acad Sci U S A 92 3 1995 841 845
99. J.A. Ibdah, M.J. Bennet, and P. Rinaldo A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women N Engl J Med 340 1999 1723 1731
100. S.I. Goodman, and F.E. Frerman Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency) J Inherit Metab Dis 7 Suppl. 1 1984 33 37
101. F.E. Frerman, and S.I. Goodman Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts Proc Natl Acad Sci U S A 82 13 1985 4517 4520
102. E. Purevjav, M. Kimura, and Y. Takusa Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II Eur J Clin Invest 32 9 2002 707 712
103. S. Yamaguchi, T. Orii, Y. Suzuki, K. Maeda, M. Oshima, and T. Hashimoto Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II Pediatr Res 29 1 1991 60 63
104. N. Gregersen Riboflavin-responsive defects of beta-oxidation J Inherit Metab Dis 8 Suppl 1 1985 65 69
105. N. Gregersen The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies Scand J Clin Lab Invest Suppl 174 1985 1 60
106. B.A. Amendt, and W.J. Rhead The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts J Clin Invest 78 1 1986 205 213
107. S. Di Donato, F.E. Frerman, M. Rimoldi, P. Rinaldo, F. Taroni, and U.N. Wiesmann Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase Neurology 36 7 1986 957 963
108. H. Mandel, D. Africk, M. Blitzer, and E. Shapira The importance of recognizing secondary carnitine deficiency in organic acidaemias: case report in glutaric acidaemia type II J Inherit Metab Dis 11 4 1988 397 402
109. C. Angelini Defects of fatty-acid oxidation in muscle Baillieres Clin Endocrinol Metab 4 3 1990 561 582
110. I.I. Slukvin, M.S. Salamat, and S. Chandra Morphologic studies of the placenta and autopsy findings in neonatal-onset glutaric acidemia type II Pediatr Dev Pathol 5 3 2002 315 321
111. R.B. Bell, A.K. Brownell, and C.R. Roe Electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) deficiency in an adult Neurology 40 11 1990 1779 1782
112. A. Curcoy, R.K. Olsen, and A. Ribes Late-onset form of beta-electron transfer flavoprotein deficiency Mol Genet Metab 78 4 2003 247 249
113. J. Schmiedel, S. Jackson, J. Schafer, and H. Reichmann Mitochondrial cytopathies J Neurol 250 3 2003 267 277
114. M.L. Schwartz, G.F. Cox, and A.E. Lin Clinical approach to genetic cardiomyopathy in children Circulation 94 8 1996 2021 2038
115. G.J. Whitman, B. Chance, and H. Bode Diagnosis and therapeutic evaluation of a pediatric case of cardiomyopathy using phosphorus-31 nuclear magnetic resonance spectroscopy J Am Coll Cardiol 5 3 1985 745 749
116. C.M. Abramovich, R.A. Prayson, J.T. McMahon, and B.H. Cohen Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases Hum Pathol 32 6 2001 649 655
117. P.M. Hoogerbrugge, and D. Valerio Bone marrow transplantation and gene therapy for lysosomal storage diseases Bone Marrow Transplant 21 Suppl. 2 1998 S34 S36
118. C. Peters, M. Balthazor, and E.G. Shapiro Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome Blood 87 11 1996 4894 4902
119. E. Herskhovitz, E. Young, and J. Rainer Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up J Inherit Metab Dis 22 1 1999 50 62
120. E.D. Kakkis, J. Muenzer, and G.E. Tiller Enzyme-replacement therapy in mucopolysaccharidosis I N Engl J Med 344 3 2001 182 188
121. M.A. Cabrera-Salazar, E. Novelli, and J.A. Barranger Gene therapy for the lysosomal storage disorders Curr Opin Mol Ther 4 4 2002 349 358