Metabolic cardiomyopathies

Sandubray, 1989, Clinical approach to inherited metabolic diseases in the neonatal period: a 20 year survey, J Inherited Metab Dis, 12, 25, 10.1007/BF01799284 Wallace, 1990, Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction, Pediatr Res, 28, 525, 10.1203/00006450-199011000-00023 Hers, 1989, Glycogen storage diseases Miranda, 1979, Phosphorylase isozymes in normal and myophosphorylase-deficient human heart, Neurology, 29, 1538, 10.1212/WNL.29.11.1538 Slonim, 1983, Improvement of muscle function in acid maltase deficiency by high protein therapy, Neurology, 33, 34, 10.1212/WNL.33.1.34 vanderPloeg, 1990, Intravenous administration of phosphorylated acid alphaglucosidase leads to uptake of enzyme in heart and skeletal muscle of mice, J Clin Invest, 87, 513, 10.1172/JCI115025 Angelini, 1972, Comparative study of acid maltase deficiency: biochemical differences between infantile, childhood and adult types, Arch Neurol, 26, 344, 10.1001/archneur.1972.00490100074007 Hug, 1984, Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells, N Engl J Med, 310, 1018, 10.1056/NEJM198404193101604 Shin, 1989, First trimester diagnosis of glycogen storage disease type II and type III, J Inherited Metab Dis, 12, 289, 10.1007/978-94-009-1069-0_30 Matsuishi, 1984, Childhood acidmaltase deficiency: a clinical, biochemical and morphologic study of three patients, Arch Neurol, 41, 47, 10.1001/archneur.1984.04050130053022 Hoefsloot, 1990, Adult and infantile glycogenosis type II in one family, explained by allelic diversity, Am J Hum Genet, 46, 45 Smit, 1990, The long term outcome of patients with glycogen storage disease, J Inherited Metab Dis, 13, 411, 10.1007/BF01799498 Labrune, 1991, Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients, Pediatr Cardiol, 12, 161, 10.1007/BF02238523 Rossignol, 1979, La myocardiopathie de la glycogenose type III, Arch Fr Pediatr, 36, 303 DiMauro, 1979, Debrancher deficiency: neuromuscular disorder in 5 adults, Am J Neurol, 5, 422, 10.1002/ana.410050504 Olson, 1984, Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomycardial biopsy, Am J Cardiol, 53, 980, 10.1016/0002-9149(84)90551-4 Slonim, 1984, Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy, J Pediatr, 105, 906, 10.1016/S0022-3476(84)80075-X Servidei, 1987, Severe cardiopathy in branching enzyme deficiency, J Pediatr, 111, 51, 10.1016/S0022-3476(87)80341-4 Farrans, 1966, Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide, Am J Cardiol, 17, 457, 10.1016/0002-9149(66)90236-0 Van den Berg, 1990, Phosphorylase b kinase deficiency in man: a review, J Inherited Metab Dis, 13, 442, 10.1007/BF01799501 Servidei, 1988, Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency, J Pediatr, 113, 82, 10.1016/S0022-3476(88)80535-3 Eishi, 1985, Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease, Hum Pathol, 16, 193, 10.1016/S0046-8177(85)80071-X Pollitt, 1989, Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death, J Inherited Metab Dis, 12, 215, 10.1007/BF01799297 Vianey-Liaud, 1987, The inborn errors of mitochondrial fatty acid oxidation, J Inherited Metab Dis, 10, 159, 10.1007/BF01812855 Harpey, 1990, Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation, Biol Neonate, 58, 70, 10.1159/000243301 Eriksson, 1988, Hereditary defect in carnitine membrane transport is expressed in skin fibroblast, Eur J Pediatr, 147, 662, 10.1007/BF00442488 Treem, 1988, Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts, N Engl J Med, 319, 1331, 10.1056/NEJM198811173192006 Tein, 1990, Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy, Pediatr Res, 28, 247, 10.1203/00006450-199009000-00020 Treem, 1989, Medium chain acyl CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long term L-carnitine supplementation, J Inherited Metab Dis, 12, 112, 10.1007/BF01800712 Roe, 1986, Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes, J Pediatr, 108, 13, 10.1016/S0022-3476(86)80762-4 Hale, 1985, Long chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycema, Pediatr Res, 19, 666, 10.1203/00006450-198507000-00006 Amend, 1988, Long chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients, Pediatr Res, 23, 603, 10.1203/00006450-198806000-00015 Treem, 1991, Hypoglycemia, hypotonia and cardiomyopathy: the evolving clinical picture of long chain acyl-CoA dehydrogenase deficiency, Pediatrics, 87, 328, 10.1542/peds.87.3.328 Haenfeldt, 1990, 3-Hydroxydicarboxylic aciduria: a fatty acid oxidation defect with severe prognosis, J Pediatr, 116, 387, 10.1016/S0022-3476(05)82826-4 Wanders, 1991, Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency: different clinical expression in three unrelated patients, J Inherited Metab Dis, 14, 325, 10.1007/BF01811694 Jackson, 1991, Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency, Pediatr Res, 29, 406, 10.1203/00006450-199104000-00016 Przyrembel, 1991, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, J Inherited Metab Dis, 14, 674, 10.1007/BF01799932 Demaugre, 1988, Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities, Pediatr Res, 24, 308, 10.1203/00006450-198809000-00006 Tein, 1989, Normal muscle CPT I and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts: tissue specific isoforms of CPT I?, J Neurol Sci, 92, 229, 10.1016/0022-510X(89)90139-1 Demaugre, 1991, Infantile form of carnitine palmitoyl transferase II deficiency with hepatomuscular symptoms and sudden death, J Clin Invest, 87, 859, 10.1172/JCI115090 Hug, 1991, Lethal neonatal multiorgan deficiency of carnitine palmitoyl transferase II, N Engl J Med, 325, 1862, 10.1056/NEJM199112263252607 Goodman, 1984, Glutaric acidemia type II multiple acyl CoA dehydrogenase deficiency, J Inherited Metab Dis, 7, 33, 10.1007/BF03047371 Harpey, 1987, Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria or systemic carnitine deficiency, J Pediatr, 110, 881, 10.1016/S0022-3476(87)80401-8 Galloway, 1987, Abnormal myocardial lipid composition in an infant with type II glutaric aciduria, J Lipid Res, 28, 279, 10.1016/S0022-2275(20)38707-1 Jakobs, 1984, Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid, Eur J Pediatr, 141, 153, 10.1007/BF00443213 DeVivo, 1990, Mitochondrial defects of brain and muscle, Biol Neonate, 58, 54, 10.1159/000243300 Rutledge, 1982, Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy, J Pediatr, 101, 706, 10.1016/S0022-3476(82)80295-3 Bakker, 1991, Neonatal cardiomyopathy and lactic acidosis responsive to thiamine, J Inherited Metab Dis, 14, 75, 10.1007/BF01804393 Shoffner, 1990, Oxidative phosphorylation diseases: disorders of two genomes, Adv Hum Genet, 19, 267, 10.1007/978-1-4757-9065-8_5 Sengers, 1984, Mitochondrial myopathies: clinical, morphological and biochemical aspects, Eur J Pediatr, 141, 192, 10.1007/BF00572761 DiMauro, 1990, Cytochrome c oxidase deficiency, Pediatr Res, 28, 536, 10.1203/00006450-199011000-00025 Kennaway, 1990, Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency, Pediatr Res, 28, 529, 10.1203/00006450-199011000-00024 Bolhuis, 1991, Mapping of the locus for X-linked cardio-skeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28, Am J Hum Genet, 48, 481 Egger, 1983, Mitochondrial inheritance in amitochondrially mediated disease, N Engl J Med, 309, 142, 10.1056/NEJM198307213090304 Shoubridge, 1990, Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease, Cell, 62, 43, 10.1016/0092-8674(90)90238-A Zeviani, 1991, Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA Leu (UUR), Lancet, 338, 143, 10.1016/0140-6736(91)90136-D Schwartzkoff, 1988, Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome, J Am Coll Cardiol, 12, 1522, 10.1016/S0735-1097(88)80020-2 Yamamoto, 1991, Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients, Neurology, 41, 1822, 10.1212/WNL.41.11.1822 Nakase, 1990, Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis, Am J Hum Genet, 46, 418 Hurko, 1990, Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations, Pediatr Res, 28, 542, 10.1203/00006450-199011000-00026 Ozawa, 1990, Multiple mitochondrial DNA delections exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy, Biochem Biophys Res Commun, 170, 830, 10.1016/0006-291X(90)92166-W Papadimitriou, 1984, Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria, Pediatr Res, 18, 1023, 10.1203/00006450-198410000-00023 Taylor, 1983, Genetic aspects of the cardiomyopathies, Prog Med Genet, 5, 163 Ehlers, 1991, Prolonged survival in patients with beta-thalassemia major treated with deferoxarine, J Pediatr, 118, 540, 10.1016/S0022-3476(05)83374-8 Cecchetti, 1991, Cardiac alterations in 36 consecutive patients with idiopathic hemochromatosis: polygraphic and echocardiographic evaluation, Eur Heart J, 12, 224, 10.1093/oxfordjournals.eurheartj.a059873 Hayflick, 1990, Acute cardiomyopathy in infancy as a complication of mucopolysaccharidosis VI, Am J Hum Genet, 47, 158 Broadbent, 1981, Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy, 56, 623 Elleder, 1990, Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease, Virchows Arch [A], 417, 449, 10.1007/BF01606034