Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders

Ultrastructural Pathology

Volumn 31, Issue 1, 2007, Pages 15-21

  Fowler, D J ^a   Anderson, G ^a   Vellodi, A ^a   Malone, M ^a   Sebire, N J ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Chorionic villus sampling; Electron microscopy; Lysosomal storage disorders; Metabolic disorders; Placenta; Trophoblast; Ultrastructure

Indexed keywords

ARTICLE; CHORION VILLUS SAMPLING; CONTROLLED STUDY; ELECTRON MICROSCOPY; GLYCOGEN STORAGE DISEASE TYPE 2; GM1 GANGLIOSIDOSIS; HUMAN; HUMAN TISSUE; HURLER SYNDROME; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MUCOLIPIDOSIS TYPE 1; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SIALIDOSIS; STORAGE DISEASE; STRUCTURE ANALYSIS; WOLMAN DISEASE;

CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; FEMALE; FETAL DISEASES; HUMANS; LYSOSOMAL STORAGE DISEASES; MEDICAL RECORDS; MICROSCOPY, ELECTRON; PREGNANCY;

EID: 34147104428     PISSN: 01913123     EISSN: 15210758     Source Type: Journal    
DOI: 10.1080/01913120601169469     Document Type: Article

References (13)

1. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. ed 7. New York: McGraw-Hill; 1995.
2. Ellison D, Love S, Chimelli L, Harding BN, Vinters HV. Neuropathology. In: Lysosomal and Peroxisomal Disorders ed 2. St. Louis: Mosby; 2004: Chapter 24.
3. Lake BD, Young EP, Winchester BG. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 1998;8:133-149.
4. Desai PK, Astrin KH, Thung SN, et al. Cholesterol ester storage disease: pathologic changes in an affected fetus. Am J Med Genet. 1987;26:689-698.
5. Sekeles E, Ornoy A, Cohen R, Kohn G. Mucolipidosis IV. Fetal and placental pathology. Monogr Hum Genet. 1978;10:47-50.
6. Krivit W, Peters C, Dusenbery K, et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant. 2000;26:567-570.
7. Hopwood JJ, Vellodi A, Scott HS, et al. Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined geneotype. J Inherit Metab Dis. 1993;16:1024-1033.
8. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gauchers disease. N Engl J Med. 1991;324:1464-1470.
9. Wraith JE, Clarke LA, Beck M. Enzyme replacement therapy for mucopolysaccharidosis, I: a randomised, double-blinded, placebo-controlled, multinational study of recombinent human alpha-L-iduronidase (Laronidase). J. Pediatr. 2004;144:581-588.
10. Hamatz P, Whitley CB, Waber L, et al. Enzyme replacement in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144:574-580.
11. Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long term intravenous treatment of Pompe disease with recombinent human alpha-glucosidase from milk. Pediatrics. 2004;113:e448-e457.
12. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinent acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24-31.
13. Meunzer J, Lamsa JC, Garcia A, et al. Enzyme replacement in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl. 2002;91:98-99.