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Items: 1 to 20 of 45

1.

Renal involvement in paediatric Fabry disease.

special issue: “Focus on pediatric nephrology”, Sestito S, Falvo F, Sallemi A, Petrisano M, Scuderi MG, Tarsitano F, D'Angelo G, Betta P, Roppa K, Parisi F, Pensabene L, Fede C, Chimenz R, Concolino D.

J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):59-63.

PMID:
31630715
2.

Coexistence of Fabry disease with IgM nephropathy: A case report.

Wu H, Behera TR, Gong J, Shen Q.

Medicine (Baltimore). 2019 Oct;98(41):e17566. doi: 10.1097/MD.0000000000017566.

3.

Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.

Ren H, Li L, Yu J, Wu S, Zhou S, Zheng Y, Sun W.

Medicine (Baltimore). 2019 Jul;98(28):e16256. doi: 10.1097/MD.0000000000016256.

4.

Central nervous system vasculopathy caused by Fabry disease: a case report.

Kong DZ, Lian YH, Wang LJ, Wang CM, Meng YY, Zhou HW.

BMC Neurol. 2019 Jun 6;19(1):115. doi: 10.1186/s12883-019-1348-9.

5.

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Čerkauskaitė A, Čerkauskienė R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, Vencevičienė L, Barysienė J, Kazėnaitė E, Sadauskienė E.

Medicina (Kaunas). 2019 May 7;55(5). pii: E122. doi: 10.3390/medicina55050122.

6.

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

Oommen S, Zhou Y, Meiyappan M, Gurevich A, Qiu Y.

Mol Genet Metab. 2019 May;127(1):74-85. doi: 10.1016/j.ymgme.2019.04.005. Epub 2019 Apr 15.

7.

Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.

Braun F, Blomberg L, Brodesser S, Liebau MC, Schermer B, Benzing T, Kurschat CE.

Cell Physiol Biochem. 2019;52(5):1139-1150. doi: 10.33594/000000077.

8.

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M, Ohashi T, Kaneshiro E, Higuchi T, Ida H.

J Hum Genet. 2019 Jul;64(7):695-699. doi: 10.1038/s10038-019-0599-z. Epub 2019 Apr 15.

PMID:
30988410
9.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.

Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.

10.

Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients.

Martineau T, Boutin M, Côté AM, Maranda B, Bichet DG, Auray-Blais C.

Clin Chim Acta. 2019 Aug;495:67-75. doi: 10.1016/j.cca.2019.03.1615. Epub 2019 Mar 19.

PMID:
30898510
11.

Migalastat: A Review in Fabry Disease.

McCafferty EH, Scott LJ.

Drugs. 2019 Apr;79(5):543-554. doi: 10.1007/s40265-019-01090-4. Review. Erratum in: Drugs. 2019 Jul 10;:.

12.

Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

Yanagisawa H, Hossain MA, Miyajima T, Nagao K, Miyashita T, Eto Y.

Mol Genet Metab. 2019 Apr;126(4):460-465. doi: 10.1016/j.ymgme.2019.03.003. Epub 2019 Mar 7.

PMID:
30871880
13.

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

Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP.

Arch Cardiovasc Dis. 2019 Apr;112(4):278-287. doi: 10.1016/j.acvd.2019.01.002. Epub 2019 Feb 28. Review.

PMID:
30826269
14.

Searching for an additional treatment to slowing the progression of Fabry disease.

Ravarotto V, Carraro G, Simioni F, Bertoldi G, Pagnin E, Calò LA.

Minerva Med. 2019 Apr;110(2):176-178. doi: 10.23736/S0026-4806.18.05799-3. No abstract available.

PMID:
30821433
15.

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.

Kim WS, Kim HS, Shin J, Park JC, Yoo HW, Takenaka T, Tei C.

J Korean Med Sci. 2019 Feb 15;34(7):e63. doi: 10.3346/jkms.2019.34.e63. eCollection 2019 Feb 25.

16.

Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.

Sasa H, Nagao M, Kino K.

Mol Genet Metab. 2019 Apr;126(4):448-459. doi: 10.1016/j.ymgme.2019.02.005. Epub 2019 Feb 20.

17.

Maternal germline mosaicism in Fabry disease.

Pianese L, Fortunato A, Silvestri S, Solano FG, Burlina A, Burlina AP, Ragno M.

Neurol Sci. 2019 Jun;40(6):1279-1281. doi: 10.1007/s10072-019-03754-1. Epub 2019 Feb 14.

PMID:
30762167
18.

Fabry disease with acute cerebral infarction onset in a young patient.

Zhang YN, Guo ZN, Zhou HW, Cheng YY, Feng JC, Wang Z.

Chin Med J (Engl). 2019 Feb;132(4):477-479. doi: 10.1097/CM9.0000000000000089. No abstract available.

19.

Cornea verticillata in Fabry disease.

Moiseev SV, Ismailova DS, Moiseev AS, Bulanov NM, Karovaikina EA, Nosova NR, Fomin VV.

Ter Arkh. 2018 Dec 30;90(12):17-22. doi: 10.26442/00403660.2018.12.000003.

PMID:
30701828
20.

Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia.

Juang JJ, Shun CT, Chen YS, Hwu WL, Lee NC, Tsai WH, Chen NQ, Chien YH.

Genet Med. 2019 Aug;21(8):1890-1891. doi: 10.1038/s41436-019-0436-y. Epub 2019 Jan 21. No abstract available.

PMID:
30662066

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