« Previous
The Journal of Pediatrics
Volume 155, Issue 4,
Supplement
, Pages S47-S56
, October 2009
The Brazilian Consensus on the Management of Pompe Disease
References
- Online Mendelian Inheritance in Man (OMIM). Available from: http://www.ncbi.nlm.nih.gov/omim. Accessed July 30, 2008.
- Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Beaudet A, Scriver C, Sly W editor. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001;p. 3389–3410
- . Pompe disease in infants and children. J Pediatr. 2004;144:S35–S43
- . Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64:2139–2141
- . A retrospective epidemiological and etiological study of metabolic disorders in children with cardiomypathies. Acta Paediatr Taiwan. 2006;47:83–87
- . Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006;13:115–120
- A retrospective multinational, multicenter study of the natural history of infantile Pompe disease. J Pediatr. 2006;148:671–676
- . Diagnostic challenges for Pompe disease: an underrecognized cause of floppy baby syndrome. Genet Med. 2006;8:289–296
- . Pompe disease diagnosis and management guidelines. Genet Med. 2006;8:267–288
- Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007;37:437–445
- Ambulatory electrocardiogram analysis in infants treated with recombinant human acid-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–317
- Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109
- . Infantile-onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005;7:147–150
- Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:297–301
- Percentile curves of normal values of echocardiographic measurements in normal children from the central-southern region of the state of São Paulo, Brazil. Arq Bras Cardiol. 2006;87:651–660
- . Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr. 2007;166:871–874
- Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia. Neurology. 2006;66:1585–1587
- Clinical manifestations and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;1–7
- The natural course of non-classic Pompe's disease: a review of 225 published cases. J Neurol. 2005;252:875–884
- . Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007;254:941–945
- Juvenile-onset acid maltase deficiency presenting as a rigid spine syndrome. Neuromuscul Disord. 2006;16:282–285
- Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord. 2007;
- Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J. 2005;26:1024–1031
- . Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006;66:581–583
- Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet. 2006;69:187–188
- . Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta. 2004;347:97–102
- Pompe disease in a Brazilian series: clinical and molecular analysis with identification of nine new mutations. J Neurol. 2009;[Epub ahead of print]
- . Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. Neuromuscul Disord. 2007;1:16–22
- Broad spectrum of Pompe disease in patients with the same c.-32-13T-G haplotype. Neurology. 2007;68:110–115
- . Two new missense mutations of GAA in late onset glycogen storage disease type II. J Neurol Sci. 2006;251:113–117
- . The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006;8307–8312
- . Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29:397–404
- Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid α-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med. 2006;8:302–306
- Rapid diagnosis of late-onset Pompe disease by Xuorometric assay of α-glucosidase activities in dried blood spots. Mol Genet Metab. 2007;90:449–452
- Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93:275–281
- . Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides. Anal Biochem. 2005;345:30–46
- . Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Clin Chim Acta. 2005;361:191–198
- Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther. 2006;14:831–839
- Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004;55:495–502
- . An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999;22:821–822
- Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Pediatr Anesth. 2004;14:514–519
- . Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64:1465–1467
- . Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997;156(Suppl 1):S39–S42
- . The effect of L-alanine therapy in a patient with adult-onset glycogen storage disease type II. J Inherit Metab Dis. 2006;29:226–229
- Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy. Muscle Nerve. 2003;27:743–751
- . Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106:82–86
- Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease. Lab Invest. 2006;86:1208–1220
- . Enzyme replacement for infantile Pompe disease: the first step toward a cure. Neurology. 2007;68:88–89
- Hyaluronidase increases the biodistribution of acid a-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy. Biochem Biophys Res Commun. 2006;359:783–787
- Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000;356:397–398
- Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266–274
- Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001;3:132–138
- Long-term efficacy of enzyme replacement therapy (ERT) in children with Pompe disease. Genet Med. 2007;146:77–86
- Long-term intravenous treatment of pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448–e457
- Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase OO clinical trial. Neuromuscul Disord. 2005;15:24–31
- Results from a phase II trial of Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;
- . ECLAMC: the Latin-American Collaborative Study of Congenital Malformations. Community Genet. 2004;7:76–94
- . Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report. J Inherit Metab Dis. 2006;29:763
- . Doenças genéticas: desafio para o SUS. In: Emerick MC, Karla BM editor. Novas Tecnologias na Genética Humana: Avanços e Impactos para a Saúde. Montenegro: Win Degrave; 2007;p. 81–86
Please see the Author Disclosures section at the end of this article.
PII: S0022-3476(09)00676-3
doi: 10.1016/j.jpeds.2009.07.006
© 2009 Mosby, Inc. All rights reserved.
« Previous
The Journal of Pediatrics
Volume 155, Issue 4,
Supplement
, Pages S47-S56
, October 2009
