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Annotated References Shin YS Glycogen storage disease: clinical, biochemical and molecular heterogeneity Semin Pediatr Neurol 2006;115–120 An excellent description of the glycogen storage diseases, with updates on genetics, biochemistry, and clinical features Scott HS, Bunge S, Gal A, et al Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications Hum Mutat 1995;6(4):288–302 This paper reviews the genetic mutations leading to MPS I and makes genotype/phenotype correlations to help explain the clinical heterogeneity of the mucopolysaccharide storage disorders Dangel JH Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients Eur J Pediatr 1998;157:534–538 The largest descriptive series available for the cardiac findings in patients with mucopolysaccharide storage disorders Michalski JC, Klein A Glycoprotein lysosomal storage disorders: alpha and beta mannosidosis, fucosidosis, and alpha-Nacetylgalactosaminidase deficiency Biochim Biophys Acta 1999;1455(2–3):69–84 This is an excellent review of the biochemistry, genetics and clinical features of the glycoproteinoses Eng CM, Germain DP, Banikazemi M, et al Fabry disease: guidelines for the evaluation and management of multi-organ system involvement Genet Med 2006;8(9):539–548 This is a comprehensive review of the management issues for patients with Fabry's disease which also touches on the genetic and biochemical aspects of the disease Guertl B, Noehammer C, Hoefler G Metabolic cardiomyopathies Int J Exp Pathol 2000;81(6):349–372 This is an excellent review of myocardial metabolism which explores the various metabolic cardiomyopathies in a sequential fashion It also provides information on other cardiomyopathies due to storage disorders, toxins, and defects of energy metabolism Marin-Garcia J, Goldenthal MJ, Filiano JJ Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype J Child Neurol 2002;17(10):759–765 This review of cases provides a good description of the breadth of mitochondrial disorders affecting cardiac function Spencer CT, Bryant RM, Day J, et al Cardiac and clinical phenotype in Barth syndrome Pediatrics 2006;118(2):e337–e346 A descriptive review of a large series of patients with Barth syndrome, covering genetic, clinical and laboratory findings with a focus on cardiovascular involvement De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE Revised diagnostic criteria for the Marfan syndrome Am J Med Genet 1996;62(4):417–426 The classic manuscript defining the consensus nosology used to diagnose Marfan syndrome, along with useful indexed tables for measurement of the sinuses of Valsalva Ramirez F, Dietz HC Marfan syndrome: from molecular pathogenesis to clinical treatment Curr Opin Genet Dev 2007;17(3):252–258 This paper is a comprehensive review describing the most recent advances in the understanding of the molecular pathogenesis of the clinical features of Marfan syndrome Wagner KR, Lechtzin N, Judge DP Current ... cardiac function Spencer CT, Bryant RM, Day J, et al Cardiac and clinical phenotype in Barth syndrome Pediatrics 2006;118(2):e337–e346 A descriptive review of a large series of patients with Barth syndrome, covering genetic, clinical
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