|
[1]
|
Germain, D.P. (2010) Fabry Disease. Orphanet Journal of Rare Diseases, 5, 30. [Google Scholar] [CrossRef] [PubMed]
|
|
[2]
|
Pogodina, V.V. (1975) Elizaveta Nilolaevna Levkovich-75th Birthday. Acta Virologica, 19, 509.
|
|
[3]
|
Gagov, S. (1975) Reactions of the Arterial Blood Pressure in Changed Haemodynamic Conditions and under the Effect of Bilateral Carotid Occlusion. Acta Physiologica et Pharmacologica Bulgarica, 3-4, 13-21.
|
|
[4]
|
Schiffmann, R., Warnock, D.G., Banikazemi, M., et al. (2009) Fabry Disease: Progression of Nephropathy, and Prevalence of Cardiac and Cerebrovascular Events before Enzyme Replacement Therapy. Nephrology Dialysis Transplantation, 24, 2102-2111. [Google Scholar] [CrossRef] [PubMed]
|
|
[5]
|
Parry, W.H., Martorano, F. and Cotton, E.K. (1976) Management of Life-Threatening Asthma with Intravenous Isoproterenol Infusions. American Journal of Diseases of Children (1960), 130, 39-42. [Google Scholar] [CrossRef] [PubMed]
|
|
[6]
|
Poole-Wilson, P.A. and Langer, G.A. (1975) Effect of pH on Ionic Exchange and Function in Rat and Rabbit Myocardium. The American Journal of Physiology, 229, 570-581. [Google Scholar] [CrossRef] [PubMed]
|
|
[7]
|
Ashton-Prolla, P., Ashley, G.A., Giugliani, R., et al. (1999) Fabry Disease: Comparison of Enzymatic, Linkage, and Mutation Analysis for Carrier Detection in a Family with a Novel Mutation (30delG). American Journal of Medical Genetics, 84, 420-424. [Google Scholar] [CrossRef]
|
|
[8]
|
Desnick, R.J. (2003) Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Man-agement, and Enzyme Replacement Therapy. Annals of Internal Medicine, 138, 338-346. [Google Scholar] [CrossRef] [PubMed]
|
|
[9]
|
Nakao, S., Takenaka, T., Maeda, M., et al. (1995) An Atypical Variant of Fabry’s Disease in Men with Left Ventricular Hypertrophy. New England Journal of Medicine, 333, 288-293. [Google Scholar] [CrossRef]
|
|
[10]
|
Svarstad, E. and Marti, H.P. (2020) The Changing Landscape of Fabry Disease. Clinical Journal of the American Society of Nephrology, 15, 569-576. [Google Scholar] [CrossRef]
|
|
[11]
|
Palecek, T., Lubanda, J.-C., Magage, S., et al. (2004) Cardiac Mani-festation of Fabry’s Disease: Current Knowledge. Vnitrni Lekarstvi, 50, 846-851.
|
|
[12]
|
Stein, J.M. (1975) The Effect of Adrenaline and of Alpha- and Beta-Adrenergic Blocking Agents on ATP Concentration and on Incorporation of 32Pi in-to ATP in Rat Fat Cells. Biochemical Pharmacology, 24, 1659-1662. [Google Scholar] [CrossRef] [PubMed]
|
|
[13]
|
Eng, C.M., Guffon, N., Wilcox, W.R., et al. (2001) Safety and Efficacy of Recombinant Human α-Galactosidase a Replacement Therapy in Fabry’s Disease. New England Journal of Medicine, 345, 9-16. [Google Scholar] [CrossRef]
|
|
[14]
|
Guérard, N., Oder, D., Nordbeck, P., et al. (2018) Lucera-stat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients with Fabry Disease on Enzyme Replacement. Clinical Pharmacology & Therapeutics, 103, 703-711. [Google Scholar] [CrossRef] [PubMed]
|
|
[15]
|
Mauer, M., Sokolovskiy, A., Barth, J.A., et al. (2017) Reduction of Podocyte Globotriaosylceramide Content in Adult Male Patients with Fabry Disease with Amenable GLA Mutations Following 6 Months of Migalastat Treatment. Journal of Medical Genetics, 54, 781-786. [Google Scholar] [CrossRef] [PubMed]
|
|
[16]
|
Hughes, D.A., Nicholls, K., Shankar, S.P., et al. (2017) Oral Pharmacological Chaperone Migalastat Compared with Enzyme Replacement Therapy in Fabry Disease: 18-Month Re-sults from the Randomised Phase III ATTRACT Study. Journal of Medical Genetics, 54, 288-296. [Google Scholar] [CrossRef] [PubMed]
|
|
[17]
|
Lenders, M., Stappers, F., Niemietz, C., et al. (2019) Muta-tion-Specific Fabry Disease Patient-Derived Cell Model to Evaluate the Amenability to Chaperone Therapy. Journal of Medical Genetics, 56, 548-556. [Google Scholar] [CrossRef] [PubMed]
|
|
[18]
|
Schiffmann, R., Goker‐Alpan, O., Holida, M., et al. (2019) Pegunigalsidase Alfa, a Novel PEGylated Enzyme Replacement Therapy for Fabry Disease, Provides Sustained Plasma Concentrations and Favorable Pharmacodynamics: A 1‐Year Phase 1/2 Clinical Trial. Journal of Inherited Metabolic Disease, 42, 534-544. [Google Scholar] [CrossRef] [PubMed]
|