Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Laboratory Investigation - Tập 86 Số 12 - Trang 1208-1220 - 2006
Beth L. Thurberg1, Colleen Maloney1, C A Vaccaro1, Kendra Afonso1, Anne Chun-Hui Tsai2, Edward H. Bossen3, Priya S. Kishnani4,5, M. W. O'CALLAGHAN6
1Department of Pathology, Genzyme Corporation, Framingham, MA, USA
2Department of Pediatrics, The Children's Hospital of Denver, Denver, CO, USA
3Department of Pathology, Duke University Medical Center, Durham, NC, USA
4Department of Pediatrics, Duke University Medical Center, Durham, NC, USA;
5Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA
6Department of Preclinical Biology, Genzyme Corporation, Framingham, MA, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Hug, 1979, Pre- and postnatal pathology, enzyme treatment, and unresolved issues in five lysosomal disorders, Pharmacol Rev, 90, 565

Phupong, 2005, Prenatal diagnosis of Pompe disease by electron microscopy, Arch Gynecol Obstet, 271, 259, 10.1007/s00404-004-0620-3

Hirschhorn, 2001, Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency, 3389

Van den Hout, 2003, The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature, Pediatrics, 112, 332, 10.1542/peds.112.2.332

Kishnani, 2006, A retrospective, multinational, multicenter study of the natural history of infantile Pompe disease, J Pediatr, 148, 671, 10.1016/j.jpeds.2005.11.033

Lynch, 2005, High resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology, J Histochem Cytochem, 53, 63, 10.1177/002215540505300108

Griffin, 1984, Infantile acid maltase deficiency, Virchows Arch, 45, 23, 10.1007/BF02889849

Hawke, 2001, Myogenic satellite cells: physiology to molecular biology, J Appl Physiol, 91, 534, 10.1152/jappl.2001.91.2.534

Deveci, 2001, Relationship between capillary angiogenesis, fiber type, and fiber size in chronic systemic hypoxia, Am J Physiol Heart Circ Physiol, 281, H241, 10.1152/ajpheart.2001.281.1.H241

Porter, 2002, Capillary supply of the tibialis anterior muscle in young, healthy, and moderately active men and women, J Appl Physiol, 92, 1451, 10.1152/japplphysiol.00744.2001

Kishnani, 2006, Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease, J Pediatr, 149, 89, 10.1016/j.jpeds.2006.02.035

Piepenhagen, 1993, Defining E-cadherin associated complexes in epithelial cells: plakoglobin, beta and gamma catenin are distinct components, J Cell Sci, 104, 751, 10.1242/jcs.104.3.751

Bancroft, 1990

Sheehan, 1980

Hesselink, 2003, Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II, Biochem Biophys Acta, 1637, 164

Cardiff, 1966, A histochemical and electron microscopic study of skeletal muscle in a case of Pompe's disease (glycogenosis II), Pediatrics, 37, 249, 10.1542/peds.37.2.249

Hug, 1966, Glycogen storage disease, type II, III, VIII, and IX, Am J Dis Child, 111, 457, 10.1001/archpedi.1966.02090080035001

Martin, 1973, Pompe's disease: An inborn lysosomal disorder with storage of glycogen- A study of brain and striated muscle, Acta Neuropath, 23, 229, 10.1007/BF00687878

Garancis, 1968, Type II glycogenosis: biochemical and electron microscopic study, Am J Med, 44, 289, 10.1016/0002-9343(68)90160-5

Hudgson, 1975, The pathology of type II skeletal muscle glycogenosis: a light and electron-microscopic study, J Path, 116, 139, 10.1002/path.1711160303

Iancu, 1988, Juvenile acid maltase deficiency presenting as paravertebral pseudotumour, Eur J Pediatr, 147, 372, 10.1007/BF00496413

Temple, 1985, The ‘muscular variant' of Pompe disease: clinical, biochemical and histologic characteristics, Am J Med Genet, 21, 597, 10.1002/ajmg.1320210322

Shotelersuk, 2002, Clinical, pathological and electron microscopic findings in two Thai children with Pompe disease, J Med Assoc Thai, 85, S271

Teng, 2004, Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings, Chang Gung Med J, 27, 379

McLennan, 1997, Cellular localization of transforming growth factor-beta2 and -beta3 (TGF-β2, TGF-β3) in damaged and regenerating skeletal muscles, Dev Dyn, 208, 278, 10.1002/(SICI)1097-0177(199702)208:2<278::AID-AJA14>3.0.CO;2-#

Herbison, 1982, Muscle fiber types, Arch Phys Med Rehabil, 63, 227

Terjung, 1988, Blood flow to different rat skeletal muscle fiber type sections during isometric contractions in situ, Med Sci Sports Exerc, 20, S124, 10.1249/00005768-198810001-00006

Raben, 2003, Enzyme replacement therapy in the mouse model of Pompe disease, Mol Genet Metab, 80, 159, 10.1016/j.ymgme.2003.08.022

Fukada, 2006, Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease, Ann Neurol, 59, 700, 10.1002/ana.20807

Schmalbruch, 1977, The number of nuclei in adult rat muscles with special reference to satellite cells, Anat Record, 189, 169, 10.1002/ar.1091890204

Gibson, 1982, The distribution of satellite cells and their relationship to specific fiber types in soleus and extensor digitorum longus muscles, Anat Record, 202, 329, 10.1002/ar.1092020305

Amalfitano, 2001, Recombinant human acid alpha-glucosidase enzyme replacement therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial, Genet Med, 3, 132

Van den Hout, 2004, Long-term intravenous treatment of Pompe disease with recombinant human α-glucosidase from milk, Pediatrics, 113, e448, 10.1542/peds.113.5.e448

Bharati, 1982, The conduction system in Pompe's disease, Pediatr Cardiol, 2, 25, 10.1007/BF02265613

Ansong, 2006, Electrocardiographic response to enzyme replacement therapy for Pompe disease, Genet Med, 8, 297, 10.1097/01.gim.0000195896.04069.5f

Makos, 1987, Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship, Ann Neurol, 22, 629, 10.1002/ana.410220512

Martini, 2001, Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2, Neurology, 57, 906, 10.1212/WNL.57.5.906

Cook, 2006, Ambulatory electrocardiogram analysis in infants treated with recombinant human acid α-glucosidase enzyme replacement therapy for Pompe disease, Genet Med, 8, 313, 10.1097/01.gim.0000217786.79173.a8

Hunley, 2004, Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease, Pediatrics, 144, e532, 10.1542/peds.2003-0988-L

Ing, 2004, Anaesthesia management of infants with glycogen storage disease type II: a physiological approach, Paediatr Anaesth, 14, 514, 10.1111/j.1460-9592.2004.01242.x

Kishnani, 2006, Recombinant Human Acid α-glucosidase: major clinical benefits in infantile onset Pompe disease, Neurology