192 related articles for article (PubMed ID: 34906154)
1. Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q; Liu J; Chen J; Zhou S; Wang Y; Yu L; Sun L; Wang L; Wu B; Liu F; Cao Y; Huang Y; Wang J; Yang C; Zhu D; Ma Y; Xu Z; Lu W; Fu L; Zhou W; Xu H
Orphanet J Rare Dis; 2021 Dec; 16(1):509. PubMed ID: 34906154
[TBL] [Abstract][Full Text] [Related]
2. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS; Bento JCB; Pereira RMR
Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
[TBL] [Abstract][Full Text] [Related]
3. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
Mallett A; Kearey P; Cameron A; Healy H; Denaro C; Thomas M; Lee VW; Stark S; Fuller M; Hoy WE
BMC Nephrol; 2020 Feb; 21(1):58. PubMed ID: 32087678
[TBL] [Abstract][Full Text] [Related]
4. Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.
Lin CJ; Chien YH; Lai TS; Shih HM; Chen YC; Pan CF; Chen HH; Hwu WL; Wu CJ
Kidney Blood Press Res; 2018; 43(5):1636-1645. PubMed ID: 30380558
[TBL] [Abstract][Full Text] [Related]
5. Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.
Sadasivan C; Chow JTY; Sheng B; Chan DKH; Fan Y; Choi PCL; Wong JKT; Tong MMB; Chan TN; Fung E; Kam KKH; Chan JYS; Chi WK; Paterson DI; Senaratne M; Brass N; Oudit GY; Lee APW
PLoS One; 2020; 15(9):e0239675. PubMed ID: 32987398
[TBL] [Abstract][Full Text] [Related]
6. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.
Ezgu F; Alpsoy E; Bicik Bahcebasi Z; Kasapcopur O; Palamar M; Onay H; Ozdemir BH; Topcuoglu MA; Tufekcioglu O
Orphanet J Rare Dis; 2022 Mar; 17(1):90. PubMed ID: 35236382
[TBL] [Abstract][Full Text] [Related]
7. Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S; Kido J; Sawada T; Momosaki K; Sugawara K; Matsumoto S; Endo F; Nakamura K
Orphanet J Rare Dis; 2020 Aug; 15(1):220. PubMed ID: 32843101
[TBL] [Abstract][Full Text] [Related]
8. Beneficial screening of Fabry disease in patients with hypohidrosis.
Nagai-Sangawa M; Fukunaga A; Takeuchi C; Nishiyama S; Horikawa T; Nagano C; Nozu K; Fujii H; Nishigori C
J Dermatol; 2022 Feb; 49(2):308-312. PubMed ID: 34796992
[TBL] [Abstract][Full Text] [Related]
9. Fabry disease: Review and experience during newborn screening.
Hsu TR; Niu DM
Trends Cardiovasc Med; 2018 May; 28(4):274-281. PubMed ID: 29100912
[TBL] [Abstract][Full Text] [Related]
10. [Multidisciplinary treatment in the long-term management of Fabry disease].
;
Zhonghua Nei Ke Za Zhi; 2023 Aug; 62(8):949-955. PubMed ID: 37528032
[TBL] [Abstract][Full Text] [Related]
11. [Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].
Ge ZH; Lu ZH; Pan XD; Lai TT; Yang MJ; Yang HQ; Zhang HB; Li GY; Dai ZQ; Mao JH
Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):345-350. PubMed ID: 38527505
[No Abstract] [Full Text] [Related]
12. Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.
Sun Y; Guan XW; Wang YY; Hong DY; Zhang ZL; Li YH; Yang PY; Wang X; Jiang T; Chi X
Clin Chim Acta; 2024 Apr; 557():117889. PubMed ID: 38531466
[TBL] [Abstract][Full Text] [Related]
13. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R; Santotoribio JD; Paula HA; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC
Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381
[TBL] [Abstract][Full Text] [Related]
14. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
[TBL] [Abstract][Full Text] [Related]
15. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.
Terryn W; Cochat P; Froissart R; Ortiz A; Pirson Y; Poppe B; Serra A; Van Biesen W; Vanholder R; Wanner C
Nephrol Dial Transplant; 2013 Mar; 28(3):505-17. PubMed ID: 23234755
[TBL] [Abstract][Full Text] [Related]
16. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
Turkmen K; Guclu A; Sahin G; Kocyigit I; Demirtas L; Erdur FM; Sengül E; Ozkan O; Emre H; Turgut F; Unal H; Karaman M; Acıkel C; Esen H; Balli E; Bıtırgen G; Tonbul HZ; Yılmaz MI; Ortiz A
Kidney Blood Press Res; 2016; 41(6):1016-1024. PubMed ID: 28006774
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.
Chen X; Li H; Liao H; Zhan X; Zhong Z; Zhang Q; Liu L; Liang Y; Deng H; Fang X; Xue Y; Wu S; Liu Y
ESC Heart Fail; 2021 Dec; 8(6):5436-5444. PubMed ID: 34704396
[TBL] [Abstract][Full Text] [Related]
18. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
Okur I; Ezgu F; Biberoglu G; Tumer L; Erten Y; Isitman M; Eminoglu FT; Hasanoglu A
Gene; 2013 Sep; 527(1):42-7. PubMed ID: 23756194
[TBL] [Abstract][Full Text] [Related]
19. The management and treatment of children with Fabry disease: A United States-based perspective.
Hopkin RJ; Jefferies JL; Laney DA; Lawson VH; Mauer M; Taylor MR; Wilcox WR;
Mol Genet Metab; 2016 Feb; 117(2):104-13. PubMed ID: 26546059
[TBL] [Abstract][Full Text] [Related]
20. Diagnosing lysosomal storage disorders: Fabry disease.
Bodamer OA; Johnson B; Dajnoki A
Curr Protoc Hum Genet; 2013; Chapter 17():Unit17.13. PubMed ID: 23595598
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]