نتائج البحث

The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.

• Authors : Zhang, Yanan¹ (AUTHOR) ; Wang, Yuling² (AUTHOR); Wang, Jinxia² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/7/2025, Vol. 20 Issue 1, p1-14. 14p.

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Epidemiology of gall bladder cancer and its prevalence worldwide: a meta-analysis.

• Authors : Afzal, Ali^1,2 (AUTHOR) ; Liu, Yan-Yan³ (AUTHOR); Noureen, Amara⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/27/2025, Vol. 20 Issue 1, p1-14. 14p.

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Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.

• Authors : Yiallouros, Panayiotis K.^1,2 (AUTHOR) ; Anagnostopoulou, Pinelopi^1,2 (AUTHOR) ; Kouis, Panayiotis¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/29/2025, Vol. 20 Issue 1, p1-9. 9p.

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Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.

• Authors : Zucchi D; Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana and Department of Clinical and Experimental Medicine, University of Pisa, ERN ReCONNET, Via Roma 67, Pisa, Italy.; Department of Medical Biotechnologies, University of Siena, Siena, Italy.

Subjects: Family Planning Services* ; Rare Diseases*/Rare Diseases*/Rare Diseases*/epidemiology ; Pregnancy Complications*/Pregnancy Complications*/Pregnancy Complications*/epidemiology

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 10; Vol. 20 (1), pp. 112. Date of Electronic Publication: 2025 Mar 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

• Authors : Kurtovic-Kozaric, Amina¹ (AUTHOR); Singer-Berk, Moriel² (AUTHOR); Wood, Jordan² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/18/2024, Vol. 19 Issue 1, p1-9. 9p.

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Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases

• Authors : Yinan Wang; Nuoya Li; Songyun Zhang

Subjects: Porphyria; ChinaMAP; Genetics

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-53 (2024)

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Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia

• Authors : Kristine Ivanova; Olga Ribakova; Anna Mihailova

Subjects: Systemic sclerosis; Demography; Latvia

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

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Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.

• Authors : Herlin, Laura Krogh^1,2 (AUTHOR) ; Schmidt, Sigrun Alba Johannesdottir^1,3 (AUTHOR); Mogensen, Trine H.^4,5 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/2/2024, Vol. 19 Issue 1, p1-8. 8p.

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Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.

• Authors : Wang R; Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China.; WanNan Medical College, Wuhu, China.

Subjects: Pneumothorax*/Pneumothorax*/Pneumothorax*/epidemiology ; Lung Diseases*/Lung Diseases*/Lung Diseases*/epidemiology; Humans Cystic Disease Of Lung

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Feb 11; Vol. 20 (1), pp. 69. Date of Electronic Publication: 2025 Feb 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

• Authors : Giugliani, Roberto¹ (AUTHOR); Solomon, Faryn² (AUTHOR); Kushlaf, Hani³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/6/2025, Vol. 20 Issue 1, p1-9. 9p.

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