Research & Literature

[Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease].

Kes VB, Cesarik M, Zavoreo I, et al.

Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti 2014; (68(2)):223-32.

[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

Mignani R, Gallieni M, Feriozzi S, et al.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia 2015; (32(4)).

Safe and Successful Treatment With Agalsidase Beta During Pregnancy in Fabry Disease.

Senocak Tasci E, Bicik Z

Iranian journal of kidney diseases 2015; (9(5)):406-8.

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

Warnock DG, Thomas CP, Vujkovac B, et al.

Journal of medical genetics 2015; (52(12)):860-6 doi:10.1136/jmedgenet-2015-103471.

The management and treatment of children with Fabry disease: A United States-based perspective.

Hopkin RJ, Jefferies JL, Laney DA, et al.

Molecular genetics and metabolism 2016; (117(2)):104-13.

[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].

Pieruzzi F, Pieroni M, Zachara E, et al.

Giornale italiano di cardiologia (2006) 2015; (16(11)):630-8 doi:10.1714/2066.22434.

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.

Kim JH, Lee BH, Hyang Cho J, et al.

Journal of human genetics 2016; (61(11)):923-929 doi:10.1038/jhg.2016.78.

Migalastat: First Global Approval.

Markham A

Drugs 2016; (76(11)):1147-52 doi:10.1007/s40265-016-0607-y.

Enzyme replacement therapy for Anderson-Fabry disease.

El Dib R, Gomaa H, Carvalho RP, et al.

The Cochrane database of systematic reviews 2016; (7()):CD006663 doi:10.1002/14651858.CD006663.pub4.

Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

Oder D, Nordbeck P, Wanner C

Nephron 2016; (134(1)):30-6 doi:10.1159/000448968.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(4)):430-438 doi:10.1038/gim.2016.122.

[The neurological manifestations of Fabry disease. A review].

Firsov KV, Kotov AS

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2016; (116(9)):98-105 doi:10.17116/jnevro20161169198-105.

[Fabry disease].

Stephan F, Haber R

Annales de dermatologie et de venereologie 2017; (144(2)):137-146 doi:10.1016/j.annder.2016.10.010.

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.

El Dib R, Gomaa H, Ortiz A, et al.

PloS one 2017; (12(3)):e0173358 doi:10.1371/journal.pone.0173358.

Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.

de Menezes Neves PDM, Machado JR, Custódio FB, et al.

BMC nephrology 2017; (18(1)):157 doi:10.1186/s12882-017-0571-0.

Biomarkers for Diagnosing and Staging of Fabry Disease.

Kramer J, Weidemann F

Current medicinal chemistry 2018; (25(13)):1530-1537 doi:10.2174/0929867324666170616102112.

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

Mignani R, Moschella M, Cenacchi G, et al.

Molecular genetics & genomic medicine 2017; (5(4)):438-442 doi:10.1002/mgg3.292.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, et al.

Medicine 2017; (96(29)):e7387 doi:10.1097/MD.0000000000007387.

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.

Talbot A, Nicholls K, Fletcher JM, Fuller M

Molecular genetics and metabolism 2017; (122(1-2)):121-125 doi:10.1016/j.ymgme.2017.08.004.

Fabry disease in children: a federal screening programme in Russia.

Namazova-Baranova LS, Baranov AA, Pushkov AA, Savostyanov KV

European journal of pediatrics 2017; (176(10)):1385-1391 doi:10.1007/s00431-017-2992-y.

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

Tuttolomondo A, Simonetta I, Duro G, et al.

Oncotarget 2017; (8(37)):61415-61424 doi:10.18632/oncotarget.18250.

Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.

Iwafuchi Y, Maruyama H, Morioka T, et al.

CEN case reports 2017; (6(2)):210-214 doi:10.1007/s13730-017-0277-y.

Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?

Biagini G, Almeida ACSF, Almeida TVR, et al.

Jornal brasileiro de nefrologia 2017; (39(3)):333-336 doi:10.5935/0101-2800.20170057.

Early Renal Involvement in a Girl with Classic Fabry Disease.

Perretta F, Antongiovanni N, Jaurretche S

Case reports in nephrology 2017; (2017()):9543079 doi:10.1155/2017/9543079.

Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.

Sakuraba H, Togawa T, Tsukimura T, Kato H

Clinical and experimental nephrology 2018; (22(4)):843-849 doi:10.1007/s10157-017-1525-3.

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, et al.

Molecular genetics and metabolism 2018; (123(4)):416-427 doi:10.1016/j.ymgme.2018.02.014.

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

Maruyama H, Miyata K, Mikame M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(1)):44-52 doi:10.1038/gim.2018.31.

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz MJ, Arbustini E, Dagna L, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018; (50(5)):429-437 doi:10.1016/j.dld.2018.02.011.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, et al.

Orphanet journal of rare diseases 2018; (13(1)):68 doi:10.1186/s13023-018-0813-7.

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation.

Selthofer-Relatic K

Case reports in cardiology 2018; (2018()):6131083 doi:10.1155/2018/6131083.

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.

Spada M, Baron R, Elliott PM, et al.

Molecular genetics and metabolism 2019; (126(3)):212-223 doi:10.1016/j.ymgme.2018.04.007.

Anderson-Fabry disease in heart failure.

Akhtar MM, Elliott PM

Biophysical reviews 2018; (10(4)):1107-1119 doi:10.1007/s12551-018-0432-5.

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, et al.

Molecular genetics and metabolism 2018; (124(3)):189-203 doi:10.1016/j.ymgme.2018.06.004.

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease.

Kasuya S, Suzuki M, Inaoka T, et al.

Journal of the Belgian Society of Radiology 2016; (100(1)):6 doi:10.5334/jbr-btr.906.

[A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up].

Zito A, De Pascalis A, Armeni A, et al.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia 2018; (35(5)).

Multiple sclerosis and fabry Disease, two sides of the coin? The case of an Italian family.

Russo C, Riccio E, Pontillo G, et al.

Multiple sclerosis and related disorders 2018; (26()):164-167 doi:10.1016/j.msard.2018.09.019.

Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease.

Tsujiuchi M, Ebato M, Maezawa H, et al.

International heart journal 2019; (60(1)):208-214 doi:10.1536/ihj.17-688.

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

van der Veen SJ, van Kuilenburg ABP, Hollak CEM, et al.

Molecular genetics and metabolism 2019; (126(2)):162-168 doi:10.1016/j.ymgme.2018.11.008.

Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.

Talbot A, Nicholls K

JIMD reports 2019; (45()):95-98 doi:10.1007/8904_2018_146.

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.

Mauhin W, Lidove O, Benveniste O

Orphanet journal of rare diseases 2019; (14(1)):4 doi:10.1186/s13023-018-0979-z.

Angiokeratomas, not everything is Fabry disease.

Cuestas D, Perafan A, Forero Y, et al.

International journal of dermatology 2019; (58(6)):713-721 doi:10.1111/ijd.14330.

The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Moiseev S, Fomin V, Savostyanov K, et al.

Nephron 2019; (141(4)):249-255 doi:10.1159/000495886.

Lysosomal storage disorders: pathology within the lysosome and beyond.

Kielian T

Journal of neurochemistry 2019; (148(5)):568-572 doi:10.1111/jnc.14672.

Fabry disease in cardiology practice: Literature review and expert point of view.

Hagège A, Réant P, Habib G, et al.

Archives of cardiovascular diseases 2019; (112(4)):278-287 doi:10.1016/j.acvd.2019.01.002.

Migalastat: A Review in Fabry Disease.

McCafferty EH, Scott LJ

Drugs 2019; (79(5)):543-554 doi:10.1007/s40265-019-01090-4.

Inter-assay variability influences migalastat amenability assessments among Fabry disease variants.

Oommen S, Zhou Y, Meiyappan M, et al.

Molecular genetics and metabolism 2019; (127(1)):74-85 doi:10.1016/j.ymgme.2019.04.005.

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Hossain MA, Wu C, Yanagisawa H, et al.

Molecular genetics and metabolism reports 2019; (20()):100497 doi:10.1016/j.ymgmr.2019.100497.

Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease.

Hanneman K, Karur GR, Wasim S, et al.

Radiology 2020; (294(1)):42-49 doi:10.1148/radiol.2019191385.

Treatment of Anderson-Fabry Disease.

Simonetta I, Tuttolomondo A, Daidone M, et al.

Current pharmaceutical design 2020; (26(40)):5089-5099 doi:10.2174/1381612826666200317142412.

Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.

Duarte AJ, Ribeiro D, Santos R, et al.

Stem cell research 2020; (45()):101794 doi:10.1016/j.scr.2020.101794.

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Stiles AR, Zhang H, Dai J, et al.

Molecular genetics and metabolism 2020; (130(3)):209-214 doi:10.1016/j.ymgme.2020.04.006.

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?

Prencipe M, Posarelli C, Figus M, Gabbriellini G

European journal of ophthalmology 2021; (31(6)):NP53-NP57 doi:10.1177/1120672120939496.

When and How to Diagnose Fabry Disease in Clinical Pratice.

Michaud M, Mauhin W, Belmatoug N, et al.

The American journal of the medical sciences 2020; (360(6)):641-649 doi:10.1016/j.amjms.2020.07.011.

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction.

Yasuda M, Huston MW, Pagant S, et al.

Molecular therapy. Methods & clinical development 2020; (18()):607-619 doi:10.1016/j.omtm.2020.07.002.

Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis.

Politei J, Frabasil J, Durand C, et al.

Biochimica et biophysica acta. Molecular basis of disease 2021; (1867(1)):165985 doi:10.1016/j.bbadis.2020.165985.

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Tsukimura T, Tayama Y, Shiga T, et al.

Molecular genetics and metabolism reports 2020; (25()):100650 doi:10.1016/j.ymgmr.2020.100650.

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.

Hopkin RJ, Feldt-Rasmussen U, Germain DP, et al.

Molecular genetics and metabolism reports 2020; (25()):100670 doi:10.1016/j.ymgmr.2020.100670.

[Fabry disease: A review].

Michaud M, Mauhin W, Belmatoug N, et al.

La Revue de medecine interne 2021; (42(2)):110-119 doi:10.1016/j.revmed.2020.08.019.

Fabry Disease Therapy: State-of-the-Art and Current Challenges.

Azevedo O, Gago MF, Miltenberger-Miltenyi G, et al.

International journal of molecular sciences 2020; (22(1)) doi:10.3390/ijms22010206.

Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson-Fabry disease: a case series.

Tomioka D, Kato K, Ozawa T, et al.

European heart journal. Case reports 2021; (5(2)):ytaa538 doi:10.1093/ehjcr/ytaa538.

New mutation in Fabry disease: c.448delG, first phenotypic description.

Calabrese E, Rodriguez Botta G, Rosenfeld DP

Molecular genetics and metabolism reports 2021; (27()):100708 doi:10.1016/j.ymgmr.2021.100708.

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.

Caputo F, Lungaro L, Galdi A, et al.

International journal of environmental research and public health 2021; (18(6)) doi:10.3390/ijerph18063320.

[Chaperone molecules: The example of Fabry disease].

Barbey F, Monney P, Dormond O

Nephrologie & therapeutique 2021; (17S()):S11-S22 doi:10.1016/j.nephro.2020.02.005.

High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

Fan Y, Chan TN, Chow JTY, et al.

Journal of clinical medicine 2021; (10(10)) doi:10.3390/jcm10102160.

Anderson-Fabry Disease: From Endothelial Dysfunction to Emerging Therapies.

Stamerra CA, Del Pinto R, di Giosia P, et al.

Advances in pharmacological and pharmaceutical sciences 2021; (2021()):5548445 doi:10.1155/2021/5548445.

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.

Viggiano E, Politano L

International journal of molecular sciences 2021; (22(14)) doi:10.3390/ijms22147663.

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond.

Nowicki M, Bazan-Socha S, Kłopotowski M, et al.

International journal of environmental research and public health 2021; (18(16)) doi:10.3390/ijerph18168242.

Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease.

Rajan JN, Ireland K, Johnson R, Stepien KM

Journal of clinical medicine 2021; (10(18)) doi:10.3390/jcm10184168.

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy.

Salerno FR, Roggero L, Rossi F, et al.

Clinical kidney journal 2022; (15(1)):171-173 doi:10.1093/ckj/sfab148.

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).

Lau K, Üçeyler N, Cairns T, et al.

Molecular genetics & genomic medicine 2022; (10(5)):e1912 doi:10.1002/mgg3.1912.

Gastrointestinal Manifestations and Treatment Options in Fabry Disease Patients. A Systematic Review.

Radulescu D, Crisan D, Militaru V, et al.

Journal of gastrointestinal and liver diseases : JGLD 2022; (31(1)):98-106 doi:10.15403/jgld-3855.

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.

Li W, Cologna SM

Molecular omics 2022; (18(4)):256-278 doi:10.1039/d2mo00004k.

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Germain DP, Altarescu G, Barriales-Villa R, et al.

Molecular genetics and metabolism 2022; (137(1-2)):49-61 doi:10.1016/j.ymgme.2022.07.010.

Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.

Cybulla M, Nicholls K, Feriozzi S, et al.

Journal of clinical medicine 2022; (11(16)) doi:10.3390/jcm11164810.

Cardiac magnetic resonance diagnosis of Fabry disease leads to incidental diagnosis of Klinefelter syndrome: a case report.

Binda G, Bridgman JC, Chapman I, Selvanayagam JB

European heart journal. Case reports 2022; (6(9)):ytac328 doi:10.1093/ehjcr/ytac328.

A Fabry Disease Patient Who Developed Hypersensitivity Reaction against Agalsidase Beta following COVID-19 Infection.

Sonmez O, Ozcan SG, Trabulus S, Seyahi N

Nephron 2023; (147(3-4)):199-202 doi:10.1159/000526235.

Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease.

Halfmann MC, Altmann S, Schoepf UJ, et al.

European radiology 2023; (33(3)):2039-2051 doi:10.1007/s00330-022-09183-7.

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features.

Aquaro GD, De Gori C, Faggioni L, et al.

Diagnostics (Basel, Switzerland) 2022; (12(11)) doi:10.3390/diagnostics12112652.

Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.

Koto Y, Yamashita W, Lee Y, et al.

Journal of patient-reported outcomes 2022; (6(1)):115 doi:10.1186/s41687-022-00525-z.

Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report.

Alitter Q

Cureus 2022; (14(11)):e30989 doi:10.7759/cureus.30989.

D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?

Vicente R, Santos I, Coimbra M, et al.

Nefrologia 2023; (43(5)):636-639 doi:10.1016/j.nefroe.2022.01.011.

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.

Hughes DA, Bichet DG, Giugliani R, et al.

Journal of medical genetics 2023; (60(7)):722-731 doi:10.1136/jmg-2022-108669.

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Perretta F, Jaurretche S

Healthcare (Basel, Switzerland) 2023; (11(4)) doi:10.3390/healthcare11040449.

Cardiac magnetic resonance in Fabry disease.

Lanzillo C, Fedele E, Martino A, et al.

European heart journal supplements : journal of the European Society of Cardiology 2023; (25(Suppl C)):C200-C204 doi:10.1093/eurheartjsupp/suad045.

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.

Stepien KM, Broomfield A, Cole D, et al.

Orphanet journal of rare diseases 2023; (18(1)):203 doi:10.1186/s13023-023-02796-1.

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.

Tuttolomondo A, Baglio I, Riolo R, et al.

International journal of molecular sciences 2023; (25(1)) doi:10.3390/ijms25010061.

Anderson-Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement.

Iorio A, Lucà F, Pozzi A, et al.

Diagnostics (Basel, Switzerland) 2024; (14(2)) doi:10.3390/diagnostics14020208.

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.

Izhar R, Borriello M, La Russa A, et al.

Genes 2023; (15(1)) doi:10.3390/genes15010037.

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.

Rodríguez Doyágüez P, Furlano M, Ars Criach E, et al.

Nefrologia 2023; (43 Suppl 2()):91-95 doi:10.1016/j.nefroe.2024.01.018.

Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.

Klein T, Grüner J, Breyer M, et al.

Brain communications 2024; (6(2)):fcae095 doi:10.1093/braincomms/fcae095.

Cochleovestibular Signs As the First Manifestation of Fabry Disease: A Case Report and Literature Review.

Zakaria Y, Yahya N, Kissani N

Cureus 2024; (16(3)):e57289 doi:10.7759/cureus.57289.

A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease.

Majid H, Verma N, Bhandari S, et al.

Expert opinion on pharmacotherapy 2024; (25(6)):769-782 doi:10.1080/14656566.2024.2354466.

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease.

De Marco O, Gambardella J, Bianco A, et al.

Frontiers in cardiovascular medicine 2024; (11()):1396996 doi:10.3389/fcvm.2024.1396996.

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.

Duro G, Anania M, Zizzo C, et al.

International journal of molecular sciences 2024; (25(10)) doi:10.3390/ijms25105158.

Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease.

Ferrari G, Kisinovsky I, Reisin R, et al.

Medicina 2024; (84(3)):516-525.

Restoration of peripheral neuropathy in Fabry mice via intrathecal administration of an adeno-associated virus vector encoding mGLA cDNA.

Higuchi T, Shimada Y, Takahashi Y, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108545 doi:10.1016/j.ymgme.2024.108545.

Cardiac involvement in Anderson-Fabry disease. The role of advanced echocardiography.

Spinelli L, Bianco A, Riccio E, et al.

Frontiers in cardiovascular medicine 2024; (11()):1440636 doi:10.3389/fcvm.2024.1440636.

The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.

Elsherif Y, Ibrahim IA, Elsherif O, Abukhadijah HJ

Clinical case reports 2024; (12(10)):e9354 doi:10.1002/ccr3.9354.

Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice.

Mignani R, Biagini E, Cianci V, et al.

Advances in therapy 2025; (42(2)):597-635 doi:10.1007/s12325-024-03041-2.

Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives.

Carella MC, Forleo C, Caretto P, et al.

Journal of clinical medicine 2024; (13(23)) doi:10.3390/jcm13237195.

Current and Emerging Therapies for Lysosomal Storage Disorders.

Abelleyra Lastoria DA, Keynes S, Hughes D

Drugs 2025; (85(2)):171-192 doi:10.1007/s40265-025-02145-5.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anania M, Pieruzzi F, Giacalone I, et al.

International journal of molecular sciences 2025; (26(2)) doi:10.3390/ijms26020473.

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.

Berti GM, Aiello V, Vischini G, et al.

BMC nephrology 2025; (26(1)):77 doi:10.1186/s12882-025-04009-2.

CT and MR Imaging of Cardiomyopathies in Clinical Practice-An Approach After an Abnormal Echocardiogram or Electrocardiogram.

Monteiro P, Peixoto T, Rodrigues P, Carvalho JG

Echocardiography (Mount Kisco, N.Y.) 2025; (42(2)):e70104 doi:10.1111/echo.70104.

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.

Tuttolomondo A, Chimenti C, Cianci V, et al.

Frontiers in cardiovascular medicine 2025; (12()):1536114 doi:10.3389/fcvm.2025.1536114.

Progress and Challenges in the Treatment of Fabry Disease.

Lenders M, Menke ER, Brand E

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2025; (39(4)):517-535 doi:10.1007/s40259-025-00723-3.

The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.

Ramaswami U, West ML, Tylee K, et al.

Molecular genetics and metabolism 2025; (145(2)):109110 doi:10.1016/j.ymgme.2025.109110.

Current status of the immunogenicity of enzyme replacement therapy in fabry disease.

Gómez-Cerezo JF, Fernández-Martín J, Barba-Romero MÁ, et al.

Orphanet journal of rare diseases 2025; (20(1)):253 doi:10.1186/s13023-025-03705-4.

Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report.

Ying Q, Yang X, Zhao N, et al.

Orphanet journal of rare diseases 2025; (20(1)):271 doi:10.1186/s13023-025-03791-4.

A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.

Eleftheriadis T, Divani M, Poulianiti C, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2025; (23(5)):383-387 doi:10.6002/ect.2025.0063.

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.

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