Enfermedad de Fabry Enfermedad de Fabry - Sociedad Argentina ...

XIII. Bibliografía
1. Argoff CE, Barton NW, Brady RO, Ziesmann HA. Gastrointestinal
symptoms and delayed gastric emptying in Fabry’s disease: Response to
metoclopramide. Nucl Med Commun 1998; 19: 887-891.
2. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc
Nephrol. 2002;13 Suppl 2:S134-8.
3. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB,
McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ;
Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for
advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan
16;146(2):77-86.
4. Bennett RL, Hart KA, Rourke EO, Barranger JA, Jonson J, MacDermont KD,
Pastores GM, Steiner RD, Thadhani R. Fabry disease in genetic counselling
practice: recommendations of the national society of genetic counsellors. J
Genet Counsel 2002; 11: 121-146.
5. Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary
Exercise Testing in Fabry Disease. Respiration 2005;72:504–511
6. Birklein F. Mechanisms of neurophatic pain and their importance in Fabry
disease. Acta Paediatr Suppl 2002; 439: 34-37.
7. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L.
Enzymatic defect in Fabry´s disease. Ceramidetrihexosidase deficiency. N
Engl J Med. 1976; 276: 1163-1167.
8. Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal
involvement in Fabry disease. J Am Soc Nephrol. 2002;13 Suppl 2:S139-43.
9. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu
G, Goldfarb L, Brady RO, Balow JE, Austin Iii HA, Kopp JB. Natural history of
Fabry renal disease: influence of alpha-galactosidase A activity and genetic
mutations on clinical course. Medicine (Baltimore). 2002;8: 122-38.
10. Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G,
Eng CM, Desnick RJ. Pulmonary involvement in Fabry disease. Am J Respir
Crit Care Med 1997; 155:1004-10
11. Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic
function. Neurology 1982; 32: 498-502.
12. Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis
in dried blood spots on filter paper. Clin Chim Acta 2001; 308: 195-196
13. Chowdhury MM, Holt PJ. Pain in Anderson-Fabry disease. Lancet 2001;
357: 887.
14. Cleeland CS. Pain assessment: the adventages of using pain scales in
lysosomal storage diseases. Acta Paediatr Suppl 2002; 439: 43-47.
15. Clinical Practice Guidelines for Chronic Kidney Disease: Evaluation,
Classification, and Stratification. Part 4. Definition and classification of stages
of chronic kidney disease. Am J Kidney Dis 39:S46-S75, 2002 (suppl 1).
16. Clinical Practice Guidelines for Chronic Kidney Disease: Evaluation,
Classification, and Stratification Part 5. Evaluation of laboratory
measurements for clinical assessment of kidney disease. Guideline 4.
Estimation of GFR . Disponible en http://www.kidney.org/professionals/KDOQI/
guidelines_ckd/toc.htm.
17. Conti G, Sergi B. Auditory and vestibular findings in Fabry disease: a
study of hemizygous males and heterozygous females. Acta Paediatr Suppl.
2003;92:33-7.
18. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W.
Fabry disease: enzymatic diagnosis of hemizygotes and heterozygotes
α-galactosidase activities in plasma, serum, urine and leukocytes. J Lab Clin
Med 1973; 81: 157-171
19. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry
disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic
bases of Inherited Disease. 8th ed. New York: MacGraw-Hill; 2001: 3733-3774
20. Desnick RJ, Brady RO, Barranger J, Collins AJ, Germain DP, Goldman M,
Grabowsky GA, Packman S, Wilcox WR. Fabry Disease, an under-recognized
multisystemic disorder: expert recommendations for diagnosis, management
and enzyme replacement therapy. Ann Intern Med 2003; 38: 338-346.
21. Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I,
Reichek N. Ecocardiography assessment of left ventricular hypertrophy:
comparison to necropsy findings. Am J of Cardiol 1986; 57:459-8
22. De Schoenmakere G, Chauveau D, Grunfeld JP. Enzyme replacement
therapy in Anderson-Fabry’s disease: beneficial clinical effect on vital organ
function. Nephrol Dial Transplant. 2003 ;18:33-5.
23. Dominguez RO, Amartino H, Chamoles NA, Grupo de Estudio de la
Enfermedad de Fabry G. Neuropathic pain in Fabry’s disease: heterogeneous
remission in three years of enzyme replacement therapy. Rev Neurol. 2006
Aug 16-31;43:201-6.
24. Dütsch M, Marthol H, Stemper B, Brys M, Haendl T, Hilz JM. Small fiber
dysfunction predominates in Fabry neuropathy. J Clin Neuroph 2002; 19:
575-586.
25. Eng CM, Gurron N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety
and efficacy of recombinant human α-galactosidase A-replacement therapy in
Fabry´s disease. N Engl J Med. 2001; 345:9-16.
26. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig
F, Charrow J, Germain DP, Nicholls K, Banikazemi M. Fabry disease: baseline
medical characteristics of a cohort of 1765 males and females in the Fabry
Registry. J Inherit Metab Dis. 2007 Apr;30(2):184-92
27. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ,
Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR.
Fabry disease: guidelines for the evaluation and management of multi-organ
system involvement. Genet Med. 2006 ;8(9):539-48.
28. Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N,
Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M,
Sakuraba H, Saito H. Enzyme replacement therapy in Japanese Fabry
disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis.
2005;28:575-83.
29. Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM,
Scheurich A, Dellani PR, Stoeter P, Muller MJ. Pattern of microstructural
brain tissue alterations in Fabry disease A diffusion-tensor imaging study. J
Neurol. 2006; 6: 1-8
30. Filling-Katz MR, Merrick HF, Finf JC, Miles RB, Sokol J, Barton NW.
Carbamacepine in Fabry’s disease: effective analgesia with dose-dependent
exacerbation of autonomic dysfunction. Neurology 1989; 39: 598-600.
31. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J,
Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon
N. Sustained, long-term renal stabilization after 54 months of agalsidase
beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007
May;18(5):1547-57.
32. Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with Fabry
disease have an increased incidence of progressive hearing loss and sudden
deafness: an investigation of twenty-two hemizygous male patients. BMC
Med Genet. 2002 ;3:1-10
33. Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M,
Desnick RJ. Fabry disease: renal sonographic and magnetic resonance
imaging findings in affected males and carrier females with the classic and
cardiac variant phenotypes. J Comput Assist Tomogr. 2004 ;28:158-68.
34. Gomez I, Nora DB, Becker J, Ehlers JAC, Schwartz IVD, Giugliani R, et al.
Nerve conduction studies, electromyography and sympathetic skin response
in Fabry’s disease. J Neurol Scien 2003; 214: 21-25.
35. Gordon KE, Ludman MD, Finley GA. Succesful treatment of painful crises
of Fabry disease with low dose morphine. Paediatr Neurol 1995; 12: 250-251.
36. Grunfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J
Inherit Metab Dis. 2001;24 Suppl 2:71-4.
37. Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A.
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement
therapy. J Inherit Metab Dis. 2003;26:787-94.
38. Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann G, Widmer
U, Mehta A, Keilmann A. Hearing loss in Fabry disease: data from the Fabry
Outcome Survey. 2006 Sep;36(9):654-62
39. Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement
therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry
neuropathy. Neurology. 2004;62:1066-72.
40. Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H. Reduced
cerebral blood flow velocity and impaired cerebral autoregulation in patients
with Fabry disease. J Neurol 2004: 251; 564-70.
41. Hopkin RJ, Bissler J, Grabowski GA. Comparative evaluation of alphagalactosidase
A infusions for treatment of Fabry disease. Genet Med.
2003;5:144-53.
42. Inderbitzin D, Avital I, Largiader F, Vogt B, Candinas D. Kidney
transplantation improves survival and is indicated in Fabry’s disease.
Transplant Proc. 2005;37:4211-4.
43. Kampmann C, Wiethoff CM, Martin C, Wenzel A, Kampmann R, Whybra
C, Miebach E, Beck M. Electrocardiographic signs of hypertrophy in Fabry
disease-associated hypertrophyc cardiomyopathy. Acta Paediatr 2002;suppl
439:21-7
44. Kanekura T, Fukushige T, Kanda A, Tsuyama S, Murata F, Sakuraba H,
Kanzaki T. Immunoelectron-microscopic detection of globotriaosylceramide
accumulated in the skin of patients with Fabry disease. Br J Dermatol.
2005;153:544-8
45. Kolodny EH, Pastores GM. Anderson-Fabry disease: Extrarenal,
Neurologic Manifestations. J Am Soc Nephrol 2002; 13: 150-153.
46. Lao LM, Kumakiri M, Mima H, Kuwahara H, Ishida H, Ishiguro K, et al. The
ultrastructural characteristics of eccrine sweat glands in a Fabry disease
patient with hypohidrosis. J Dermatol. Sci. 1998; 18: 109-117.
47. Larralde M, Boggio P, Amartino H, Chamoles N. Fabry disease: a study of 6
hemizygous men and 5 heterozygous women with emphasis on dermatologic
13