نتائج البحث

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

• Authors : Qisu Ying; Xiu Yang; Ning Zhao

Subjects: Fabry disease; Renal failure; Left ventricular hypertrophy

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-7 (2025)

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Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.

• Authors : Li, Shu-Yuan¹ (AUTHOR); Feng, Jia-Yan² (AUTHOR); Li, Zhong-Die¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 6/6/2024, Vol. 19, p1-13. 13p.

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Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study.

• Authors : Matsumura T; Department of Neurology, NHO Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka, Osaka, 560-8552, Japan. .; Fukudome T

Subjects: Heart Failure*/Heart Failure*/Heart Failure*/drug therapy ; Heart Failure*/Heart Failure*/Heart Failure*/metabolism ; ortho-Aminobenzoates*/ortho-Aminobenzoates*/ortho-Aminobenzoates*/therapeutic use

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jan 09; Vol. 20 (1), pp. 13. Date of Electronic Publication: 2025 Jan 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Progression of QRS duration – a potential surrogate marker of survival in ATTRwt amyloidosis patients.

• Authors : Hein, Selina^1,2 (AUTHOR) ; aus dem Siepen, Fabian¹ (AUTHOR); Zierleyn, Sonja M.¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/20/2025, Vol. 20 Issue 1, p1-9. 9p.

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Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations

• Authors : Cusumano, Lucas R; Tesoriero, Joseph A; Wilsen, Craig B

Subjects: Biomedical and Clinical Sciences; Cardiovascular Medicine and Haematology; Congenital Structural Anomalies

• Source: Orphanet Journal of Rare Diseases. 16(1)

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Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.

• Authors : Mignani, Renzo^1,2 (AUTHOR) ; Berti, Gian Marco¹ (AUTHOR) ; Vischini, Gisella² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 9/2/2025, Vol. 20 Issue 1, p1-10. 10p.

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Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study.

• Authors : Lee, DoHyeon¹ (AUTHOR); Park, Samel² (AUTHOR); Yu, Hyejin¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/10/2025, Vol. 20 Issue 1, p1-13. 13p.

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Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study

• Authors : Esther S. Veldhoen; Camiel A. Wijngaarde; Ruben P. A. van Eijk

Subjects: Lung function; Natural history; Neuromuscular

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

تفاصيل العنوان

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

• Authors : Ying, Qisu; Yang, Xiu; Zhao, Ning

Subjects: KIDNEY failure; LEFT ventricular hypertrophy; DELAYED onset of disease

• Source: Orphanet Journal of Rare Diseases; 6/3/2025, Vol. 20 Issue 1, p1-7, 7p

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Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

• Authors : Ayami Yoshimi; Kaori Ishikawa; Charlotte Niemeyer

Subjects: 0301 basic medicine; 0303 health sciences; Mitochondrial Diseases

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

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