The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson’s model: a qualitative study by Lin Mo, Fan-yan Du

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Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease by Niels Weifenbach, Annalena A. C. Schneckenburger, Stefan Lötters

“…Common variable immunodeficiency (CVID), although the most common primary immunodeficiency in humans, is a rare disease. We explored the spatial global distribution and country-wise prevalence of CVID, based on published data and those available from databases. …”
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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye by Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek

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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

Subjects: “…rare diseases…”
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The Kleine-Levin Syndrome: A Rare Disease with Often Delayed Diagnosis—A Report of Two Cases in the Department of Neurology of the University Hospital of Cocody (Côte d’Ivoire) by Berthe Assi, Constance Yapo-Ehounoud, Mohamed Ben Allaoui Baby, Evelyne Aka-Diarra, Muriel Amon-Tanoh, Christian Tanoh

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Rare Manifestation of a Rare Disease, Acute Liver Failure in Adult Onset Still’s Disease: Dramatic Response to Methylprednisolone Pulse Therapy—A Case Report and Review by Nalini Valluru, Venkata S. Tammana, Michael Windham, Eyasu Mekonen, Rehana Begum, Andrew Sanderson

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Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes by XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan

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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

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A proposed conceptual model for orphan drug market entry by Nataša Jalen, Tina Vukasović

Subjects: “…marketing model, marketing strategy, rare disease, health technology assessment, orphan drug, grounded theory…”
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Relevance of superoxide dismutase type 1 to lipoid pneumonia: the first retrospective case-control study by Yinan Hu, Yanhong Ren, Yinzhen Han, Zhen Li, Weiqing Meng, Yuhui Qiang, Mengyuan Liu, Huaping Dai

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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

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Value contribution of leniolisib in the Treatment of Activated PI3Kδ syndrome (APDS) in Spain using Multi-Criteria Decision Analysis (MCDA) by María Reyes Abad, Carmen Alerany, Luis Ignacio Gonzalez, Olaf Neth, Concepción Payares-Herrera, Carlos Rodríguez-Gallego, Jose Luis Trillo, Kirsten H. Herrmann, Raquel Figueiredo, Alicia Gil

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Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature by Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony

“…Journal of Rare Diseases…”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

“…Journal of Rare Diseases…”
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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study by Zhi-Xian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xin-Yuan Chen, Yu-Sen Qiu, Ru-Ying Yuan, Zhi-Li Chen, Min-Ting Lin, Jian-Ping Hu, Ying Fu, Wan-Jin Chen, Ning Wang, Shi-Rui Gan, on behalf of the OSCCAR Investigators

“…Orphanet Journal of Rare Diseases…”
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Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

“…Orphanet Journal of Rare Diseases…”
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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

“…Orphanet Journal of Rare Diseases…”
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Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review by Diego Delgado, Firas Dabbous, Nitin Shivappa, Faizan Mazhar, Eric Wittbrodt, Divya Shridharmurthy, Krister Järbrink

“…Orphanet Journal of Rare Diseases…”
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Diagnosis and management of superficial arteriovenous malformations: French healthcare network’s recommendations by Olivia Boccara, Didier Salvan, Claude Laurian, Caroline Degrugillier-Chopinet, Nathalie Degardin, Jean-Guillaume Dillinger, Julie Malloizel-Delaunay, Stéphane Mouton, Stéphane Munck, Annabel Maruani, Annouk Bisdorff-Bresson

“…Orphanet Journal of Rare Diseases…”
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Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study by Lujie Zhang, Yongqiu Yu, Ting Liu, Chongyi Li, Liang Tan, Shuiqian Wen

“…Orphanet Journal of Rare Diseases…”
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