Pompe disease diagnosis and management guideline ACMG Work Group on Management of Pompe Disease :
暂无分享,去创建一个
B. Byrne | D. Rapoport | M. Watson | M. Patterson | C. Tifft | R. Steiner | D. Millington | R. Howell | D. Bali | M. Nicolino | R. Kravitz | K. Berger | P. Kishnani | D. Marsden | L. Case | J. Mackey | A. Slonim | C. Spencer | Gwendolyn M. O'Grady | S. Downs | J. F. Crowley | A. M. Martins | M. Watson
[1] P. Odenrick,et al. Isometric muscle force and anthropometric values in normal children aged between 3.5 and 15 years. , 2020, Scandinavian journal of rehabilitation medicine.
[2] P. Meikle,et al. Newborn screening for lysosomal storage disorders. , 2006, Molecular genetics and metabolism.
[3] G. Herman,et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. , 2006, The Journal of pediatrics.
[4] Barry Byrne,et al. Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome , 2006, Genetics in Medicine.
[5] Wuh-Liang Hwu,et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. , 2006, The Journal of pediatrics.
[6] Amanda L. Cook,et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid α-glucosidase enzyme replacement therapy for Pompe disease , 2006, Genetics in Medicine.
[7] S. Idriss,et al. Electrocardiographic response to enzyme replacement therapy for Pompe disease , 2006, Genetics in Medicine.
[8] P. Kishnani,et al. Physical therapy management of Pompe disease , 2006, Genetics in Medicine.
[9] S. Dimauro,et al. Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture? , 2006, Muscle & nerve.
[10] D. Koeberl,et al. Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[11] B. Byrne,et al. Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors , 2005, Gene Therapy.
[12] Yuan-Tsong Chen,et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. , 2005, Molecular genetics and metabolism.
[13] D. Koeberl,et al. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[14] M. Littner,et al. Practice parameters for the indications for polysomnography and related procedures: an update for 2005. , 2005, Sleep.
[15] B. Byrne,et al. Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. , 2005, Human gene therapy.
[16] D. Marsden. Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study , 2005, Genetics in Medicine.
[17] B. Wong,et al. Bone health in Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004 , 2005, Neuromuscular Disorders.
[18] T. Voit,et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial , 2005, Neuromuscular Disorders.
[19] K. Bushby,et al. Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention , 2005, Neuromuscular Disorders.
[20] A. Janssens,et al. Late-onset Pompe disease primarily affects quality of life in physical health domains , 2004, Neurology.
[21] M. Gelb,et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. , 2004, Clinical chemistry.
[22] N. Chamoles,et al. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. , 2004, Clinica chimica acta; international journal of clinical chemistry.
[23] David Gozal,et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. , 2004, American journal of respiratory and critical care medicine.
[24] C. I. Zeeuw,et al. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse , 2004, Neurobiology of Disease.
[25] A. Ross,et al. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach , 2004, Paediatric anaesthesia.
[26] R. Howell,et al. Pompe disease in infants and children. , 2004, The Journal of pediatrics.
[27] C. Rubin,et al. Low Magnitude Mechanical Loading Is Osteogenic in Children With Disabling Conditions , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[28] D. V. Leenen,et al. Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II , 2004, Human mutation.
[29] W. Flemons,et al. Comparison of home oximetry monitoring with laboratory polysomnography in children. , 2003, Chest.
[30] B. Bembi,et al. Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II , 2003, Journal of Inherited Metabolic Disease.
[31] W. Hop,et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. , 2003, Pediatrics.
[32] Ferhaan Ahmad,et al. Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy , 2003, Circulation.
[33] L. Severijnen,et al. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy , 2003, Muscle & nerve.
[34] Yuan-Tsong Chen,et al. Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. , 2003, Analytical biochemistry.
[35] I. McEwen,et al. Use of power mobility for a young child with spinal muscular atrophy. , 2003, Physical therapy.
[36] A. Simonds,et al. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness , 2003, European Respiratory Journal.
[37] S. Haley,et al. Development of a disease-specific disability instrument for Pompe disease , 2003, Pediatric rehabilitation.
[38] M. Eagle. Report on the Muscular Dystrophy Campaign workshop: Exercise in neuromuscular diseases Newcastle, January 2002 , 2002, Neuromuscular Disorders.
[39] A. Garwick,et al. Family-centered care coordination for children with special needs across multiple settings. , 2002, Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners.
[40] W. Fowler. Consensus Conference Summary: Role of Physical Activity and Exercise Training in Neuromuscular Diseases , 2002, American journal of physical medicine & rehabilitation.
[41] O. Bodamer,et al. L-alanine supplementation in late infantile glycogen storage disease type II. , 2002, Pediatric neurology.
[42] B. Byrne,et al. Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.
[43] M. Mccaffery. Choosing a faces pain scale. , 2002, Nursing.
[44] Yuan-Tsong Chen,et al. Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.
[45] B. Byrne,et al. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). , 2002, Current molecular medicine.
[46] P. Laforêt,et al. Juvenile and adult-onset acid maltase deficiency in France: Genotype–phenotype correlation , 2001, Neurology.
[47] T. Voit,et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency , 2001, Neurology.
[48] P. Meikle,et al. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. , 2001, Clinical chemistry.
[49] C. L. Hicks,et al. The Faces Pain Scale – Revised: toward a common metric in pediatric pain measurement , 2001, Pain.
[50] D. Millington,et al. Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. , 2000, Analytical biochemistry.
[51] C. Oktenli. Renal Magnesium Wasting, Hypomagnesemic Hypocalcemia, Hypocalciuria and Osteopenia in a Patient with Glycogenosis Type II , 2000, American Journal of Nephrology.
[52] O. Bodamer,et al. The effects of l-alanine supplementation in late-onset glycogen storage disease type II , 2000, Neurology.
[53] F. Martiniuk,et al. Identification of two subtypes of infantile acid maltase deficiency. , 2000, The Journal of pediatrics.
[54] U. Werlauff,et al. A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy , 2000, Neuromuscular Disorders.
[55] K. Waters,et al. Nocturnal Pulse Oximetry as an Abbreviated Testing Modality for Pediatric Obstructive Sleep Apnea , 2000 .
[56] M. Kroos,et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling , 1999, European Journal of Human Genetics.
[57] N. Raben,et al. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[58] J. Metzl,et al. An Interesting Case of Infant Sudden Death: Severe Hypertrophic Cardiomyopathy in Pompe's Disease , 1999, Pacing and clinical electrophysiology : PACE.
[59] A. Reuser,et al. A diagnostic protocol for adult-onset glycogen storage disease type II , 1999, Neurology.
[60] J. Varni,et al. The PedsQL: measurement model for the pediatric quality of life inventory. , 1999, Medical care.
[61] R. Hirschhorn,et al. Frequency of mutations for glycogen storage disease type II in different populations: the Δ525T and Δexon 18 mutations are not generally “common” in white populations , 1999, Journal of medical genetics.
[62] J E Ware,et al. Overview of the SF-36 Health Survey and the International Quality of Life Assessment (IQOLA) Project. , 1998, Journal of clinical epidemiology.
[63] W. Rom,et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. , 1998, American journal of medical genetics.
[64] D. Pauly,et al. Complete correction of acid α-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle , 1998, Gene Therapy.
[65] C. McDonald,et al. Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery. , 1998, Physical medicine and rehabilitation clinics of North America.
[66] C. Granger,et al. Interrater agreement and stability of the Functional Independence Measure for Children (WeeFIM): use in children with developmental disabilities. , 1997, Archives of physical medicine and rehabilitation.
[67] J. Yewdell,et al. Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion. , 1997, Human gene therapy.
[68] O. Bodamer,et al. Dietary treatment in late-onset acid maltase deficiency , 1997, European Journal of Pediatrics.
[69] R. Brady,et al. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[70] A. Reuser,et al. Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis? , 1995, Pediatric Research.
[71] S. Krechel,et al. CRIES: a new neonatal postoperative pain measurement score. Initial testing of validity and reliability , 1995, Paediatric anaesthesia.
[72] A. Reuser,et al. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. , 1994, Biochemical and biophysical research communications.
[73] S. Pandya,et al. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. , 1994, Physical therapy.
[74] M. Margolis,et al. Obstructive sleep apnea syndrome in acid maltase deficiency. , 1994, Chest.
[75] Larry H. Ludlow,et al. Pediatric Evaluation of Disability Inventory , 1994 .
[76] R. Manfredi,et al. Elevation of transaminases as an early sign of late-onset glycogenosis type II , 1993, European Journal of Pediatrics.
[77] J. Chi,et al. A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation. , 1993, Journal of Korean medical science.
[78] T. Young,et al. The occurrence of sleep-disordered breathing among middle-aged adults. , 1993, The New England journal of medicine.
[79] Yuan-Tsong Chen,et al. Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate , 1992, Prenatal diagnosis.
[80] James W. Hall. Handbook of Auditory Evoked Responses , 1991 .
[81] T. Choudhury,et al. Glycogen storage disease (type-III). , 1991, Indian pediatrics.
[82] B. Riou,et al. Effects of Etomidate on the Cardiac Papillary Muscle of Normal Hamsters and Those with Cardiomyopathy , 1990, Anesthesiology.
[83] R. Reeve,et al. The faces pain scale for the self-assessment of the severity of pain experienced by children: Development, initial validation, and preliminary investigation for ratio scale properties , 1990, Pain.
[84] M. Hirayama,et al. Late-onset acid maltase deficiency associated with intracranial aneurysm , 1988, Journal of Neurology.
[85] C Tabary,et al. FOR HOW LONG MUST THE SOLEUS MUSCLE BE STRETCHED EACH DAY TO PREVENT CONTRACTURE? , 1988, Developmental medicine and child neurology.
[86] M. Hart,et al. Alpha‐glucosidase deficiency and basilar artery aneurysm: Report of a sibship , 1987, Annals of neurology.
[87] N. Soni,et al. Pompe's disease and anaesthesia , 1986, Anaesthesia.
[88] V. Mathiowetz,et al. Grip and pinch strength: norms for 6- to 19-year-olds. , 1986, The American journal of occupational therapy : official publication of the American Occupational Therapy Association.
[89] A. Pearson,et al. Bone marrow transplantation for glycogen storage disease type II (Pompé's disease) , 1986, The New England journal of medicine.
[90] L. Poenaru,et al. Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy , 1985, Clinical genetics.
[91] G. Guyatt,et al. The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure. , 1985, Canadian Medical Association journal.
[92] V. Mathiowetz,et al. Grip and pinch strength: normative data for adults. , 1985, Archives of physical medicine and rehabilitation.
[93] E. Joosten,et al. Respiratory failure as initial symptom of acid maltase deficiency. , 1984, Journal of neurology, neurosurgery, and psychiatry.
[94] Paul J. Vignos,et al. Physical models of rehabilitation in neuromuscular disease , 1983, Muscle & nerve.
[95] K. Hirschhorn,et al. Improvement of muscle function in acid maltase deficiency by high‐protein therapy , 1983, Neurology.
[96] Fowler Wm. Rehabilitation management of muscular dystrophy and related disorders: II. Comprehensive care. , 1982 .
[97] M. Bergner,et al. The Sickness Impact Profile: Development and Final Revision of a Health Status Measure , 1981, Medical care.
[98] F. Ellis. Inherited muscle disease. , 1980, British journal of anaesthesia.
[99] G. Hutchins,et al. Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. , 1978, American heart journal.
[100] P. Gillette,et al. Electrophysiological mechanism of the short PR interval in Pompe disease. , 1974, American journal of diseases of children.
[101] W. Schubert,et al. Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. , 1973, Birth defects original article series.
[102] A. Engel,et al. The spectrum and diagnosis of acid maltase deficiency , 1973, Neurology.
[103] P. Vignos,et al. Management of progressive muscular dystrophy in childhood. , 1963, JAMA.
[104] J. Horner,et al. Swallowing in torticollis before and after rhizotomy , 2006, Dysphagia.
[105] D. Pongratz,et al. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. , 2005, Neurology.
[106] K. Nagashima,et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[107] D. Koeberl,et al. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.
[108] C. Angelini,et al. Adult acid maltase deficiency: an open trial with albuterol and branched- chain aminoacids , 2004 .
[109] Ellen B. Roecker,et al. A penetration-aspiration scale , 2004, Dysphagia.
[110] W. Hop,et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. , 2004, Pediatrics.
[111] Gary C. Sieck,et al. ATS/ERS Statement on respiratory muscle testing. , 2002, American journal of respiratory and critical care medicine.
[112] A. Orlacchio,et al. Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy. , 2002, Human molecular genetics.
[113] J. Smeitink,et al. Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. , 2001, Journal of inherited metabolic disease.
[114] J. Charrow,et al. Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial , 2001, Genetics in Medicine.
[115] A. Reuser,et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. , 2000, Lancet.
[116] P. L. Smith,et al. Effects of varying approaches for identifying respiratory disturbances on sleep apnea assessment. , 2000, American journal of respiratory and critical care medicine.
[117] R W Bohannon,et al. Reference values for extremity muscle strength obtained by hand-held dynamometry from adults aged 20 to 79 years. , 1997, Archives of physical medicine and rehabilitation.
[118] T. Bertorini,et al. Respiratory insufficiency in adult-type acid maltase deficiency. , 1993, Southern medical journal.
[119] C. Granger,et al. The functional independence measure: a new tool for rehabilitation. , 1987, Advances in clinical rehabilitation.
[120] W. Braunsdorf. Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe's disease). , 1987, Neurosurgery.
[121] H. Meinck,et al. [Hemodynamic findings in the adult form of type II glycogenosis]. , 1986, Zeitschrift für Kardiologie.
[122] J. L. Griffin. Infantile acid maltase deficiency , 1984, Virchows Archiv. B, Cell pathology including molecular pathology.
[123] L. Poenaru,et al. White blood cells and the diagnosis of alpha-glucosidase deficiency. , 1980, Pediatric research.
[124] D. A. Gibson,et al. Pseudohypertrophic muscular dystrophy and its surgical management: review of 30 patients. , 1970, Canadian journal of surgery. Journal canadien de chirurgie.
[125] H. Hers. α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease) , 1963 .
[126] P. Vignos,et al. A study of contractures in muscular dystrophy. , 1959, Archives of physical medicine and rehabilitation.