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

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

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manifestations. Arch Dermatol. 2004;140:1440-6. 48. Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, Geagan L, Qiu H, Seiger K, Barngrover D, McPherson JM, Edmunds T. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology. 2003;13:305-13. 49. Lettieri, C, Inglese C, Preda P, Alfieri S, Gemignani F, Marbini A. Small fiber neuropathy in an 11-year-old boy with fabry disease. J Perip Ner Sys 2003; 8: 53-54. 50. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of Fabry´s disease by diphenylhydantoin. Neurology 1973; 23: 871-875. 51. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001;38:769–75. 52. MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol 2001; 429: 121- 125. 53. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750-60. 54. Maier E, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher A, Muntau A. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Pædiatrica, 2006; Suppl 451: 30-38. 55. Maisey DN, Cosh JA. Basilar artery aneurysm and Anderson-Fabry disease. J Neurol Neurosurg Psychiatry 1980; 43: 85-7. 56. Mastropasqua L, Nubile M, Lanzini M, Carpineto P, Toto L, Ciancaglini M. Corneal and conjunctival manifestations in Fabry disease: in vivo confocal microscopy study. Am J Ophthalmol. 2006 ;14:709-18. 57. Meikle PJ, et al. Prevalence of lysosomal disorders. JAMA 1999; 28: 1249- 1254. 58. Melzack J. The short-form McGill Pain Questionnarie. Pain 1987; 30: 191- 197. 59. Mills K, Johnson A, Winchester B. Síntesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 2002 515: 171-176. 60. Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, Winchester B. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr 2004;163: 595-603. 61. Mitsias P, Levine SR. Cerebrovascular complications of Fabry´s disease. Ann Neurol 1996; 40: 8-17. 62. Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R. White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull. 2003; 62: 231-40. 63. Moore DF, Schiffmann R, Ulug AM. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl. 2002;439: 67– 68. 64. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, Pease- Fye M, Ferri R, Brady RO, Herscovitch P, Schiffmann R. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation. 2001 25;104:1506-12. 65. Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, Charria-Ortiz G, Ferri R, Arai AE, Brady RO, Schiffmann R. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 2002 ;33:525-31. 66. Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol. 2005;33:164-8. 67. Ortiz A, Marron B. Treatment of Fabry’s disease: for whom, when, and how. Nefrologia. 2003;23(1):7-9. 68. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003, 107:1978–1984. 69. Pieroni M, Chimenti C, Russo A, Russo MA, Maseri A, Frustaci A. Tissue Doppler imaging in Fabry disease. Curr Opin Cardiol 2004, 19:452–457 70. Politei JM, Pagano MA. Peripheral neuropathy in Anderson-Fabry disease: its physiology, evaluation and treatment. Rev Neurol. 2004;38:979-83 71. Politei JM, Capizzano AA. Magnetic resonance image findings in 5 young patients with Fabry disease. Neurologist. 2006;12:103-5. 72. Pomar Blanco P, San Roman Carbajo J, Martin Villares C, Rodriguez Martin F, Paniagua J, Fernandez Pello M, Tapia Risueno M. Otology manifestations of the Anderson-Fabry disease. Acta Otorrinolaringol Esp. 2006;57:115-7. 73. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder- Plassmann G, Widmer U, Beck M; FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006;95:86-92. 74. Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer, F, et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 2003; 26: 413-414. 75. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics. 2005;115:e344-55. 76. Sakuraba H, Murata-Ohsawa M, Kawashima I, Tajima Y, Kotani M, Ohshima T, Chiba Y, Takashiba M, Jigami Y, Fukushige T, Kanzaki T, Itoh K.. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet. 2006;51:180-8. 77. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore F, Sharabi Y, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003;28:703-10. 78. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-2749. 79. Scott LJC, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford JC, et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999; 52: 1249-1254. 80. Sergi B, Conti G. Hearing loss in a family affected by Fabry disease. J Inherit Metab Dis. 2007 ;30(3):370-4. 81. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, Mehta AB, Elliott PM. Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease. Am J Cardiol 2005;96: 842– 846. 82. Siamopoulos KC. Fabry disease: kidney involvement and enzyme replacement therapy. Kidney Int. 2004;65:744-53. 83. Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE, O’Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. J Invest Dermatol. 2004;122:900-8 84. Utsumi K, Yamamoto N, Kase R, et al. High incidence of thrombosis in Fabry’s disease. Intern Med. 1997; 36: 327-9. 85. Uyama E, Ueno N, Uchino M, Narahara T, Owada M, Taketomi T, Ando M. Headache associated with aseptic meningeal reaction as clinical onset of Fabry’s disease. Headache. 1995;35:498-501. 86. Váyanse H, Chaba T, Clarke L, Taylor G. Pseudo-lysosomal storage disease caused by EMLA cream. J. Inherit. metab. Dis. 2004;27:507-511. 87. Vibert D, Blaser B, Ozdoba C, Häusler R. Fabry\’s disease: otoneurologic findings in twelve members of one family Ann Otol Rhinol Laryngol. 2006 ;115(6):412-8. 88. Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis. 2006;13:138-47. 89. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement of Cardiac Function During Enzyme Replacement Therapy in Patients With Fabry Disease. A Prospective Strain Rate Imaging Study. Circulation. 2003;108:1299-1301 90. Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Bruhl K, Gal A, Bunge S, Beck M. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715–24. 91. Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, Winchester B. Is globotriaosylceramide a useful biomarker in Fabry disease Acta Pædiatrica 2005; 94(Suppl 447): 51–54. 14

manifestations. Arch Dermatol. 2004;140:1440-6.<br />

48. Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, Geagan<br />

L, Qiu H, Seiger K, Barngrover D, McPherson JM, Edmunds T. A biochemical<br />

and pharmacological comparison of enzyme replacement therapies for the<br />

glycolipid storage disor<strong>de</strong>r <strong>Fabry</strong> disease. Glycobiology. 2003;13:305-13.<br />

49. Lettieri, C, Inglese C, Preda P, Alfieri S, Gemignani F, Marbini A. Small fiber<br />

neuropathy in an 11-year-old boy with fabry disease. J Perip Ner Sys 2003; 8:<br />

53-54.<br />

50. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of<br />

<strong>Fabry</strong>´s disease by diphenylhydantoin. Neurology 1973; 23: 871-875.<br />

51. MacDermot KD, Holmes A, Miners AH. An<strong>de</strong>rson-<strong>Fabry</strong> disease: clinical<br />

manifestations and impact of disease in a cohort of 60 obligate carrier<br />

females. J Med Genet 2001;38:769–75.<br />

52. MacDermot J, MacDermot KD. Neuropathic pain in An<strong>de</strong>rson-<strong>Fabry</strong><br />

disease: pathology and therapeutic options. Eur J Pharmacol 2001; 429: 121-<br />

125.<br />

53. MacDermot KD, Holmes A, Miners AH. An<strong>de</strong>rson-<strong>Fabry</strong> disease: clinical<br />

manifestations and impact of disease in a cohort of 98 hemizygous males. J<br />

Med Genet. 2001;38:750-60.<br />

54. Maier E, Osterrie<strong>de</strong>r S, Whybra C, Ries M, Gal A, Beck M, Roscher<br />

A, Muntau A. Disease manifestations and X inactivation in heterozygous<br />

females with <strong>Fabry</strong> disease. Acta Pædiatrica, 2006; Suppl 451: 30-38.<br />

55. Maisey DN, Cosh JA. Basilar artery aneurysm and An<strong>de</strong>rson-<strong>Fabry</strong><br />

disease. J Neurol Neurosurg Psychiatry 1980; 43: 85-7.<br />

56. Mastropasqua L, Nubile M, Lanzini M, Carpineto P, Toto L, Ciancaglini M.<br />

Corneal and conjunctival manifestations in <strong>Fabry</strong> disease: in vivo confocal<br />

microscopy study. Am J Ophthalmol. 2006 ;14:709-18.<br />

57. Meikle PJ, et al. Prevalence of lysosomal disor<strong>de</strong>rs. JAMA 1999; 28: 1249-<br />

1254.<br />

58. Melzack J. The short-form McGill Pain Questionnarie. Pain 1987; 30: 191-<br />

197.<br />

59. Mills K, Johnson A, Winchester B. Síntesis of novel internal standards<br />

for the quantitative <strong>de</strong>termination of plasma cerami<strong>de</strong> trihexosi<strong>de</strong> in <strong>Fabry</strong><br />

disease by tan<strong>de</strong>m mass spectrometry. FEBS Lett 2002 515: 171-176.<br />

60. Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, Winchester B.<br />

Monitoring the clinical and biochemical response to enzyme replacement<br />

therapy in three children with <strong>Fabry</strong> disease. Eur J Pediatr 2004;163: 595-603.<br />

61. Mitsias P, Levine SR. Cerebrovascular complications of <strong>Fabry</strong>´s disease.<br />

Ann Neurol 1996; 40: 8-17.<br />

62. Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P,<br />

Schiffmann R. White matter lesions in <strong>Fabry</strong> disease occur in ‘prior’<br />

selectively hypometabolic and hyperperfused brain regions. Brain Res Bull.<br />

2003; 62: 231-40.<br />

63. Moore DF, Schiffmann R, Ulug AM. Elevated CNS average diffusion<br />

constant in <strong>Fabry</strong> disease. Acta Paediatr Suppl. 2002;439: 67– 68.<br />

64. Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, Pease-<br />

Fye M, Ferri R, Brady RO, Herscovitch P, Schiffmann R. Regional cerebral<br />

hyperperfusion and nitric oxi<strong>de</strong> pathway dysregulation in <strong>Fabry</strong> disease:<br />

reversal by enzyme replacement therapy. Circulation. 2001 25;104:1506-12.<br />

65. Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, Charria-Ortiz<br />

G, Ferri R, Arai AE, Brady RO, Schiffmann R. Elevated cerebral blood flow<br />

velocities in <strong>Fabry</strong> disease with reversal after enzyme replacement. Stroke.<br />

2002 ;33:525-31.<br />

66. Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A.<br />

Ophthalmological manifestations of <strong>Fabry</strong> disease: a survey of patients<br />

at the Royal Melbourne <strong>Fabry</strong> Disease Treatment Centre. Clin Experiment<br />

Ophthalmol. 2005;33:164-8.<br />

67. Ortiz A, Marron B. Treatment of <strong>Fabry</strong>’s disease: for whom, when, and<br />

how. Nefrologia. 2003;23(1):7-9.<br />

68. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early<br />

<strong>de</strong>tection of <strong>Fabry</strong> cardiomyopathy by tissue Doppler imaging. Circulation<br />

2003, 107:1978–1984.<br />

69. Pieroni M, Chimenti C, Russo A, Russo MA, Maseri A, Frustaci A. Tissue<br />

Doppler imaging in <strong>Fabry</strong> disease. Curr Opin Cardiol 2004, 19:452–457<br />

70. Politei JM, Pagano MA. Peripheral neuropathy in An<strong>de</strong>rson-<strong>Fabry</strong><br />

disease: its physiology, evaluation and treatment. Rev Neurol. 2004;38:979-83<br />

71. Politei JM, Capizzano AA. Magnetic resonance image findings in 5 young<br />

patients with <strong>Fabry</strong> disease. Neurologist. 2006;12:103-5.<br />

72. Pomar Blanco P, San Roman Carbajo J, Martin Villares C, Rodriguez Martin<br />

F, Paniagua J, Fernan<strong>de</strong>z Pello M, Tapia Risueno M. Otology manifestations of<br />

the An<strong>de</strong>rson-<strong>Fabry</strong> disease. Acta Otorrinolaringol Esp. 2006;57:115-7.<br />

73. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sun<strong>de</strong>r-<br />

Plassmann G, Widmer U, Beck M; FOS European Investigators. Clinical<br />

manifestations of <strong>Fabry</strong> disease in children: data from the <strong>Fabry</strong> Outcome<br />

Survey. Acta Paediatr. 2006;95:86-92.<br />

74. Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer, F, et al.<br />

Use of gabapentin to reduce chronic neuropathic pain in <strong>Fabry</strong> disease. J<br />

Inherit Metab Dis 2003; 26: 413-414.<br />

75. Ries M, Gupta S, Moore DF, Sach<strong>de</strong>v V, Quirk JM, Murray GJ, Rosing<br />

DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO,<br />

Schiffmann R. Pediatric <strong>Fabry</strong> disease. Pediatrics. 2005;115:e344-55.<br />

76. Sakuraba H, Murata-Ohsawa M, Kawashima I, Tajima Y, Kotani M,<br />

Ohshima T, Chiba Y, Takashiba M, Jigami Y, Fukushige T, Kanzaki T, Itoh K..<br />

Comparison of the effects of agalsidase alfa and agalsidase beta on cultured<br />

human <strong>Fabry</strong> fibroblasts and <strong>Fabry</strong> mice. J Hum Genet. 2006;51:180-8.<br />

77. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore F, Sharabi Y,<br />

et al. Enzyme replacement therapy improves peripheral nerve and sweat<br />

function in <strong>Fabry</strong> disease. Muscle Nerve 2003;28:703-10.<br />

78. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al.<br />

Enzyme replacement therapy in <strong>Fabry</strong> disease: a randomized controlled trial.<br />

JAMA 2001; 285: 2743-2749.<br />

79. Scott LJC, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford JC, et<br />

al. Quantitative analysis of epi<strong>de</strong>rmal innervation in <strong>Fabry</strong> disease. Neurology<br />

1999; 52: 1249-1254.<br />

80. Sergi B, Conti G. Hearing loss in a family affected by <strong>Fabry</strong> disease. J<br />

Inherit Metab Dis. 2007 ;30(3):370-4.<br />

81. Shah JS, Hughes DA, Sach<strong>de</strong>v B, Tome M, Ward D, Lee P, Mehta AB,<br />

Elliott PM. Prevalence and Clinical Significance of Cardiac Arrhythmia in<br />

An<strong>de</strong>rson-<strong>Fabry</strong> Disease. Am J Cardiol 2005;96: 842– 846.<br />

82. Siamopoulos KC. <strong>Fabry</strong> disease: kidney involvement and enzyme<br />

replacement therapy. Kidney Int. 2004;65:744-53.<br />

83. Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE,<br />

O’Callaghan M. Monitoring the 3-year efficacy of enzyme replacement<br />

therapy in fabry disease by repeated skin biopsies. J Invest Dermatol.<br />

2004;122:900-8<br />

84. Utsumi K, Yamamoto N, Kase R, et al. High inci<strong>de</strong>nce of thrombosis in<br />

<strong>Fabry</strong>’s disease. Intern Med. 1997; 36: 327-9.<br />

85. Uyama E, Ueno N, Uchino M, Narahara T, Owada M, Taketomi T, Ando M.<br />

Headache associated with aseptic meningeal reaction as clinical onset of<br />

<strong>Fabry</strong>’s disease. Headache. 1995;35:498-501.<br />

86. Váyanse H, Chaba T, Clarke L, Taylor G. Pseudo-lysosomal storage disease<br />

caused by EMLA cream. J. Inherit. metab. Dis. 2004;27:507-511.<br />

87. Vibert D, Blaser B, Ozdoba C, Häusler R. <strong>Fabry</strong>\’s disease: otoneurologic<br />

findings in twelve members of one family Ann Otol Rhinol Laryngol. 2006<br />

;115(6):412-8.<br />

88. Warnock DG, West ML. Diagnosis and management of kidney involvement<br />

in <strong>Fabry</strong> disease. Adv Chronic Kidney Dis. 2006;13:138-47.<br />

89. Wei<strong>de</strong>mann F, Breunig F, Beer M, Sandste<strong>de</strong> J, Turschner O, Voelker W,<br />

Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement of Cardiac Function<br />

During Enzyme Replacement Therapy in Patients With <strong>Fabry</strong> Disease. A<br />

Prospective Strain Rate Imaging Study. Circulation. 2003;108:1299-1301<br />

90. Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann<br />

J, Bruhl K, Gal A, Bunge S, Beck M. An<strong>de</strong>rson-<strong>Fabry</strong> disease: clinical<br />

manifestations of disease in female heterozygotes. J Inherit Metab Dis<br />

2001;24:715–24.<br />

91. Young E, Mills K, Morris P, Vellodi A, Lee P, Wal<strong>de</strong>k S, Winchester B. Is<br />

globotriaosylcerami<strong>de</strong> a useful biomarker in <strong>Fabry</strong> disease Acta Pædiatrica<br />

2005; 94(Suppl 447): 51–54.<br />

14

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