TY - CHAP AU - Desnick, R. J. AU - Ioannou, Y. A. AU - Eng, C. M. ED - Scriver, C. R. ED - Beaudet, A. L. ED - Sly, W. S. ED - et, a. l. PY - 2001 DA - 2001// TI - α-Galactosidase A deficiency: Fabry disease BT - The Metabolic and Molecular Bases of Inherited Disease PB - McGraw-Hill CY - New York, NY ID - Desnick2001 ER - TY - JOUR AU - Elleder, M. AU - Bradova, V. AU - Smid, F. PY - 1990 DA - 1990// TI - Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy JO - Virchows Arch A Pathol Anat Histopathol VL - 417 UR - https://doi.org/10.1007/BF01606034 DO - 10.1007/BF01606034 ID - Elleder1990 ER - TY - JOUR AU - Nakao, S. AU - Kodama, C. AU - Takenaka, T. PY - 2003 DA - 2003// TI - Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype JO - Kidney Int VL - 64 UR - https://doi.org/10.1046/j.1523-1755.2003.00160.x DO - 10.1046/j.1523-1755.2003.00160.x ID - Nakao2003 ER - TY - JOUR AU - Nakao, S. AU - Takenaka, T. AU - Maeda, M. PY - 1995 DA - 1995// TI - An atypical variant of Fabry's disease in men with left ventricular hypertrophy JO - N Engl J Med VL - 333 UR - https://doi.org/10.1056/NEJM199508033330504 DO - 10.1056/NEJM199508033330504 ID - Nakao1995 ER - TY - JOUR AU - von Scheidt, W. AU - Eng, C. M. AU - Fitzmaurice, T. F. PY - 1991 DA - 1991// TI - An atypical variant of Fabry's disease with manifestations confined to the myocardium JO - N Engl J Med VL - 324 UR - https://doi.org/10.1056/NEJM199102073240607 DO - 10.1056/NEJM199102073240607 ID - von Scheidt1991 ER - TY - JOUR AU - Ashley, G. A. AU - Shabbeer, J. AU - Yasuda, M. PY - 2001 DA - 2001// TI - Fabry disease: Twenty novel α-galactosidase A mutations causing the classical phenotype JO - J Hum Genet VL - 46 UR - https://doi.org/10.1007/s100380170088 DO - 10.1007/s100380170088 ID - Ashley2001 ER - TY - JOUR AU - Shabbeer, J. AU - Yasuda, M. AU - Luca, E. AU - Desnick, R. J. PY - 2002 DA - 2002// TI - Fabry disease: 45 novel mutations in the a-galactosidase. A gene causing the classical phenotype JO - Mol Genet Metab VL - 76 UR - https://doi.org/10.1016/S1096-7192(02)00012-4 DO - 10.1016/S1096-7192(02)00012-4 ID - Shabbeer2002 ER - TY - JOUR AU - Barker, D. F. AU - Schafer, M. AU - White, R. PY - 1984 DA - 1984// TI - Restriction sites containing CpG show a higher frequency of polymorphism in human DNA JO - Cell VL - 36 UR - https://doi.org/10.1016/0092-8674(84)90081-3 DO - 10.1016/0092-8674(84)90081-3 ID - Barker1984 ER - TY - JOUR AU - Cooper, C. AU - Youssoufian, H. PY - 1988 DA - 1988// TI - The CpG dinucleotide and human genetic disease JO - Hum Genet VL - 78 UR - https://doi.org/10.1007/BF00278187 DO - 10.1007/BF00278187 ID - Cooper1988 ER - TY - JOUR AU - Davies, J. P. AU - Winchester, B. G. AU - Malcolm, S. PY - 1993 DA - 1993// TI - Sequence variations in the first exon of alpha-galactosidase A JO - J Med Genet VL - 30 UR - https://doi.org/10.1136/jmg.30.8.658 DO - 10.1136/jmg.30.8.658 ID - Davies1993 ER - TY - JOUR AU - Fitzmaurice, T. F. AU - Desnick, R. J. AU - Bishop, D. F. PY - 1997 DA - 1997// TI - Human α-galactosidase A: High plasma activity expressed by the-30G → A allele JO - J Inherit Metab Dis VL - 20 UR - https://doi.org/10.1023/A:1005366224351 DO - 10.1023/A:1005366224351 ID - Fitzmaurice1997 ER - TY - JOUR AU - Froissart, R. AU - Guffon, N. AU - Vanier, M. T. PY - 2003 DA - 2003// TI - Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma JO - Mol Genet Metab VL - 80 UR - https://doi.org/10.1016/S1096-7192(03)00136-7 DO - 10.1016/S1096-7192(03)00136-7 ID - Froissart2003 ER - TY - JOUR AU - Yasuda, M. AU - Shabbeer, J. AU - Benson, S. D. PY - 2003 DA - 2003// TI - Fabry disease: Characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele JO - Hum Mutat VL - 22 UR - https://doi.org/10.1002/humu.10275 DO - 10.1002/humu.10275 ID - Yasuda2003 ER - TY - JOUR AU - Brown, R. M. AU - Brown, G. K. PY - 1993 DA - 1993// TI - X-chromosome inactivation and the diagnosis of X-linked disease in females JO - J Med Genet VL - 30 UR - https://doi.org/10.1136/jmg.30.3.177 DO - 10.1136/jmg.30.3.177 ID - Brown1993 ER - TY - JOUR AU - Lyon, M. PY - 1961 DA - 1961// TI - Gene action in the X-chromosome of the mouse (Mus musculus L.) JO - Nature VL - 190 UR - https://doi.org/10.1038/190372a0 DO - 10.1038/190372a0 ID - Lyon1961 ER - TY - CHAP AU - Willard, H. F. ED - Scriver, C. R. ED - Beaudet, A. L. ED - Sly, W. S. ED - et, a. l. PY - 2001 DA - 2001// TI - The sex chromosome and X chromosome inactivation BT - The Metabolic and Molecular Bases of Inherited Disease PB - McGraw-Hill CY - New York, NY ID - Willard2001 ER - TY - JOUR AU - Eng, C. M. AU - Banikazemi, M. AU - Gordon, R. PY - 2001 DA - 2001// TI - A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies JO - Am J Hum Genet VL - 68 UR - https://doi.org/10.1086/318809 DO - 10.1086/318809 ID - Eng2001 ER - TY - JOUR AU - Eng, C. M. AU - Guffon, N. AU - Wilcox, W. R. PY - 2001 DA - 2001// TI - Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease JO - N Eng J Med VL - 345 UR - https://doi.org/10.1056/NEJM200107053450102 DO - 10.1056/NEJM200107053450102 ID - Eng2001 ER - TY - JOUR AU - Schiffmann, R. AU - Kopp, J. B. AU - Austin, H. A. PY - 2001 DA - 2001// TI - Enzyme replacement therapy in Fabry disease: A randomized controlled trial JO - JAMA VL - 285 UR - https://doi.org/10.1001/jama.285.21.2743 DO - 10.1001/jama.285.21.2743 ID - Schiffmann2001 ER - TY - JOUR AU - Wilcox, W. R. AU - Banikazemi, M. AU - Guffon, N. PY - 2004 DA - 2004// TI - Long-term safety and efficacy of enzyme replacement therapy for Fabry disease JO - Am J Hum Genet VL - 75 UR - https://doi.org/10.1086/422366 DO - 10.1086/422366 ID - Wilcox2004 ER - TY - JOUR AU - Galanos, J. AU - Nicholls, K. AU - Grigg, L. PY - 2002 DA - 2002// TI - Clinical features of Fabry's disease in Australian patients JO - Intern Med J VL - 32 UR - https://doi.org/10.1046/j.1445-5994.2002.00291.x DO - 10.1046/j.1445-5994.2002.00291.x ID - Galanos2002 ER - TY - JOUR AU - MacDermot, K. D. AU - Holmes, A. AU - Miners, A. H. PY - 2001 DA - 2001// TI - Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females JO - J Med Genet VL - 38 UR - https://doi.org/10.1136/jmg.38.11.769 DO - 10.1136/jmg.38.11.769 ID - MacDermot2001 ER - TY - JOUR AU - Desnick, R. J. AU - Brady, R. AU - Barranger, J. PY - 2003 DA - 2003// TI - Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy JO - Ann Intern Med VL - 138 UR - https://doi.org/10.7326/0003-4819-138-4-200302180-00014 DO - 10.7326/0003-4819-138-4-200302180-00014 ID - Desnick2003 ER - TY - JOUR AU - Fan, J. Q. PY - 2003 DA - 2003// TI - A contradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity JO - Trends Pharmacol Sci VL - 24 UR - https://doi.org/10.1016/S0165-6147(03)00158-5 DO - 10.1016/S0165-6147(03)00158-5 ID - Fan2003 ER - TY - JOUR AU - Asano, N. AU - Ishii, S. AU - Kizu, H. PY - 2000 DA - 2000// TI - In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalacto-nojirimycin and its derivatives JO - Eur J Biochem VL - 267 UR - https://doi.org/10.1046/j.1432-1327.2000.01457.x DO - 10.1046/j.1432-1327.2000.01457.x ID - Asano2000 ER - TY - JOUR AU - Desnick, R. J. AU - Schuchman, E. H. PY - 2002 DA - 2002// TI - Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders JO - Nat Rev Genet VL - 3 UR - https://doi.org/10.1038/nrg963 DO - 10.1038/nrg963 ID - Desnick2002 ER - TY - JOUR AU - Fan, J. Q. AU - Ishii, S. AU - Asano, N. AU - Suzuki, Y. PY - 1999 DA - 1999// TI - Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor JO - Nat Med VL - 5 UR - https://doi.org/10.1038/4801 DO - 10.1038/4801 ID - Fan1999 ER - TY - JOUR AU - Ishii, S. AU - Yoshioka, H. AU - Mannen, K. PY - 2004 DA - 2004// TI - Transgenic mouse expressing human mutant a-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease JO - Biochim Biophys Acta VL - 1690 UR - https://doi.org/10.1016/j.bbadis.2004.07.001 DO - 10.1016/j.bbadis.2004.07.001 ID - Ishii2004 ER - TY - JOUR AU - Frustaci, A. AU - Chimenti, C. AU - Ricci, R. PY - 2001 DA - 2001// TI - Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy JO - N Eng J Med VL - 345 UR - https://doi.org/10.1056/NEJM200107053450104 DO - 10.1056/NEJM200107053450104 ID - Frustaci2001 ER - TY - JOUR AU - Garman, S. C. AU - Garboczi, D. N. PY - 2004 DA - 2004// TI - The molecular defect leading to Fabry disease: Structure of human alpha-galactosidase JO - J Mol Biol VL - 337 UR - https://doi.org/10.1016/j.jmb.2004.01.035 DO - 10.1016/j.jmb.2004.01.035 ID - Garman2004 ER - TY - JOUR AU - Matsuzawa, F. AU - Aikawa, S. I. AU - Doi, H. PY - 2005 DA - 2005// TI - Fabry disease: Correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes JO - Hum Genet VL - 117 UR - https://doi.org/10.1007/s00439-005-1300-5 DO - 10.1007/s00439-005-1300-5 ID - Matsuzawa2005 ER - TY - JOUR AU - Desnick, R. J. AU - Allen, K. Y. AU - Desnick, S. J. PY - 1973 DA - 1973// TI - Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes JO - J Lab Clin Med VL - 81 ID - Desnick1973 ER - TY - JOUR AU - Shabbeer, J. AU - Robinson, M. AU - Desnick, R. J. PY - 2005 DA - 2005// TI - Detection of α-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography JO - Hum Mutat VL - 25 UR - https://doi.org/10.1002/humu.20144 DO - 10.1002/humu.20144 ID - Shabbeer2005 ER - TY - JOUR AU - Wang, A. AU - Bishop, D. AU - Desnick, R. PY - 1990 DA - 1990// TI - Human α-N-acetylgalactosaminidase: Molecular cloning, nucleotide sequence, and expression of a full-length cDNA JO - J Biol Chem VL - 265 ID - Wang1990 ER - TY - JOUR AU - Higgins, M. E. AU - Davies, J. P. AU - Chen, F. W. AU - Ioannou, Y. A. PY - 1999 DA - 1999// TI - Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network JO - Mol Genet Metab VL - 68 UR - https://doi.org/10.1006/mgme.1999.2882 DO - 10.1006/mgme.1999.2882 ID - Higgins1999 ER - TY - JOUR AU - Garman, S. C. AU - Hannick, L. AU - Zhu, A. AU - Garboczi, D. N. PY - 2002 DA - 2002// TI - The 1.9 A structure of α-N-acetylgalactosaminidase: Molecular basis of glycosidase deficiency diseases JO - Structure (Camb) VL - 10 UR - https://doi.org/10.1016/S0969-2126(02)00726-8 DO - 10.1016/S0969-2126(02)00726-8 ID - Garman2002 ER - TY - JOUR AU - Jones, T. A. AU - Zou, J. Y. AU - Cowan, S. W. AU - Kjeldgaard, M. PY - 1991 DA - 1991// TI - Improved methods for building protein models in electron density maps and the location of errors in these models JO - Acta Crystallogr VL - A47 UR - https://doi.org/10.1107/S0108767390010224 DO - 10.1107/S0108767390010224 ID - Jones1991 ER - TY - JOUR AU - Brunger, A. T. AU - Adams, P. D. AU - Clore, G. M. PY - 1998 DA - 1998// TI - Crystallography & NMR system: A new software suite for macromolecular structure determination JO - Acta Crystallogr VL - D54 ID - Brunger1998 ER -