Biegstraaten M, van Schaik IN, Wieling W, Wijburg FA, Hollak CE. Autonomic neuropathy in Fabry disease: a prospective study using the autonomic symptom profile and cardiovascular autonomic function tests. BMC Neurol. 2010;10:38. https://doi.org/10.1186/1471-2377-10-38.
Article PubMed PubMed Central Google Scholar
Michaud M, Mauhin W, Belmatoug N, et al. When and how to diagnose Fabry disease in clinical pratice. Am J Med Sci. 2020;360(6):641–9. https://doi.org/10.1016/j.amjms.2020.07.011.
Nampoothiri S, Yesodharan D, Bhattacherjee A, et al. Fabry disease in India: a multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Rep. 2020;56(1):82–94. https://doi.org/10.1002/jmd2.12156.
Article PubMed PubMed Central Google Scholar
Sharma VK, Kumar B, Kaur I, Kaur S. Fabry’s disease. Indian J Dermatol Venereol Leprol. 1985;51(2):105–7.
Surjushe A, Jindal S, Sao P, Medhekar S, Saple DG. Anderson-Fabry’s disease with marfanoid features. Indian J Dermatol Venereol Leprol. 2008;74(4):389–91. https://doi.org/10.4103/0378-6323.42911.
Patil RB, Joglekar VK. Teenager male with burning pain in extremities–suspect Fabry disease, 2 case reports. J Assoc Physicians India. 2014;62(1):69–71.
Kaur I, Singal A, Jakhar D, Pandhi D. Fabry’s disease manifesting as familial angiokeratoma corporis diffusum in an Indian family—a rare occurrence! Indian J Paediatr Dermatol. 2020;21:319–22.
Prasad P, Singh A, Yachha M, et al. Fabry Disease: report of two cases with uncommon presentation. Indian J Nephrol. 2022;32(6):625–8. https://doi.org/10.4103/ijn.ijn_263_21.
Article PubMed PubMed Central Google Scholar
Savostyanov K, Pushkov A, Zhanin I, et al. Genotype–phenotype correlations in 293 Russian patients with causal Fabry disease variants. Genes. 2023;14(11):2016.
Article CAS PubMed PubMed Central Google Scholar
Gilchrist M, Casanova F, Tyrrell JS, et al. Prevalence of Fabry disease-causing variants in the UK biobank. J Med Genet. 2023;60(4):391–6.
Article CAS PubMed Google Scholar
Kermond-Marino A, Weng A, Xi Zhang SK, Tran Z, Huang M, Savige J. Population frequency of undiagnosed Fabry disease in the general population. Kidney Int Rep. 2023;8(7):1373–9. https://doi.org/10.1016/j.ekir.2023.04.009.
Article PubMed PubMed Central Google Scholar
Schiffmann R, Kopp JB, Austin HA. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285(21):2743–9.
Article CAS PubMed Google Scholar
Schiffmann R, Swift C, McNeill N, et al. Low frequency of Fabry disease in patients with common heart disease. Genet Med. 2018;20:754–9.
Article CAS PubMed Google Scholar
Kitagawa T, Ishige N, Suzuki K. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab. 2005;85(3):196–202.
Article CAS PubMed Google Scholar
Rombach SM, Dekker N, Bouwman MG. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta. 2010;1802(9):741–8.
Article CAS PubMed Google Scholar
Thomas DC, Sharma S, Puri RD, Verma IC, Verma J. Lysosomal storage disorders: novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry. Gaucher Hurler Dis Clin Biochem. 2021;89:14–37. https://doi.org/10.1016/j.clinbiochem.2020.12.002.
Wani MM, Khan I, Bhat RA, Ahmad M. Fabry’s disease: case series and review of literature. Ann Med Health Sci Res. 2016;6(3):193–7. https://doi.org/10.4103/2141-9248.183935.
Article PubMed PubMed Central Google Scholar
Shapria E, Blitzer MG, Miller JB, et al. Fluorometric assays in biochemical genetics: a laboratory manual. New York: Oxford University Press; 1989. p. 19–46.
Franzen D, Krayenbuehl PA, Lidove O, Aubert JD, Barbey F. Pulmonary involvement in Fabry disease: overview and perspectives. Eur J Intern Med. 2013;24(8):707–13. https://doi.org/10.1016/j.ejim.2013.05.003.
Pensabene L, Sestito S, Nicoletti A, Graziano F, Strisciuglio P, Concolino D. Gastrointestinal symptoms of patients with Fabry disease. Gastroenterol Res Pract. 2016;2016:9712831. https://doi.org/10.1155/2016/9712831.
Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922–36. https://doi.org/10.1016/j.jacc.2020.12.024.
Article CAS PubMed Google Scholar
Kleinert J, Dehout F, Schwarting A, et al. Anemia is a new complication in Fabry disease: data from the Fabry outcome survey. Kidney Int. 2005;67(5):1955–60. https://doi.org/10.1111/j.1523-1755.2005.00294.x.
Lee KY, Jeon SY, Hong JW, et al. A case of Fabry’s disease with congenital agammaglobulinemia. J Korean Med Sci. 2011;26(7):966–70. https://doi.org/10.3346/jkms.2011.26.7.966.
Article CAS PubMed PubMed Central Google Scholar
Cainelli F, Argandykov D, Kaldarbekov D, Mukarov M, Tran T, Phuong L, Germain DP. Case report: first two identified cases of Fabry disease in central Asia. Front Genet. 2021;12:657824. https://doi.org/10.3389/fgene.2021.657824.
Article PubMed PubMed Central Google Scholar
Lee DY, Jeong JY, Lee SE, et al. Discordant renal progression of Fabry disease in male monozygotic twins: a case report. Front Genet. 2023;14:1150822. https://doi.org/10.3389/fgene.2023.1150822.
Article PubMed PubMed Central Google Scholar
Oliveira JP, Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations. Appl Clin Genet. 2019;12:35–50. https://doi.org/10.2147/TACG.S146022.
Article CAS PubMed PubMed Central Google Scholar
Gomez M, Molina L, Cladellas M, et al. Phenotype and genotype characterization and twin association in patients with Anderson–Fabry cardiomyopathy. Cardiology. 2012;121(2):71–5. https://doi.org/10.1159/000336168.
Germain DP, Elliott PM, Falissard B, et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019;19:100454. https://doi.org/10.1016/j.ymgmr.2019.100454.
Article CAS PubMed PubMed Central Google Scholar
Germain DP, Arad M, Burlina A, et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease—a systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126(3):224–35. https://doi.org/10.1016/j.ymgme.2018.09.007.
Comments (0)