نتائج البحث

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.

• Authors : Leibrock, Berenike¹ (AUTHOR); Landfeldt, Erik² (AUTHOR); Hussong, Justine³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/21/2023, Vol. 18 Issue 1, p1-10. 10p.

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The cost of the diagnostic odyssey of patients with suspected rare diseases.

• Authors : Glaubitz, Rick¹ (AUTHOR) ; Heinrich, Luise¹ (AUTHOR); Tesch, Falko¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/10/2025, Vol. 20 Issue 1, p1-11. 11p.

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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.

• Authors : Xu, Chaolong¹ (AUTHOR); Zhao, Dan¹ (AUTHOR); Duan, Xin¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/10/2025, Vol. 20 Issue 1, p1-9. 9p.

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Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers

• Authors : Sebastian Zimny; Hélène Bourhis; Sabine Weber

Subjects: Wilson disease; Medical care; Surveillance

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

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Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis.

• Authors : Patel, Anish¹ (AUTHOR) ; Toro, Walter¹ (AUTHOR); Yang, Min² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/30/2024, Vol. 19 Issue 1, p1-11. 11p.

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The challenges of hepatic epithelioid hemangioendothelioma: the diagnosis and current treatments of a problematic tumor.

• Authors : Atyah, Manar Mikhail¹ (AUTHOR); Sun, Yongliang¹ (AUTHOR) ; Yang, Zhiying¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 11/30/2024, Vol. 19 Issue 1, p1-9. 9p.

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Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products.

• Source: Orphanet Journal of Rare Diseases. 12/5/2024, Vol. 19 Issue 1, p1-27. 27p.

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Hereditary angioedema in Spain: medical care and patient journey

• Authors : Teresa Caballero; Carmen Alonso; María Luisa Baeza

Subjects: Hereditary angioedema; Patient journey; Recommendations

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

• Authors : Marie De Antonio; Céline Dogan; Ferroudja Daidj

Subjects: Myotonic dystrophy; Rare disease registry; Platform

• Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)

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Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system.

• Authors : Sisk, Bryan^1,2 (AUTHOR); Lin, Sunny³ (AUTHOR); Kerr, Anna M.⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/18/2024, Vol. 19 Issue 1, p1-9. 9p.

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