Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

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Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives by Ben Green

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Abstracts of the 2023 UDNI Conference

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Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry by Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans

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Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023) by Oleg Kvlividze, Tinatin (Tika) Tkemaladze

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Primary ovarian peripheral primitive neuroectodermal tumor presented with breast metastasis; Case report by Razan Rabi, Majd Hamed Allah, Yusuf Dawabsheh

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Durable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report by Meghan M Lynch, Pedro Hermida-Viveiros, Sean Stencel, Hannah Knott, Rusul Al-Maryati, Farres Obeidin, Borislav A Alexiev, Susan Abbinanti, Senthil Damodaran, Mark Agulnik, Seth M Pollack

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Diagnosis and management of benign secreting pancreatic insulinoma: What’s new? 4 case report by Khawla Bahou, Youssef Achour, Mehdi Ilahiane, Hamza Sekkat, Younes Bakali, Mouna Mhamdi Alaoui, Mohammed Raiss, Farid Sabbah, Abdelmalek Hrora

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Fitz-Hugh-Curtis syndrome: a case study of a frequently missed diagnosis by Zephania D. P. Gega, Henry I. Lyimo, Daniel W. Kitua, Ally H. Mwanga

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Genomic diversity: meeting the challenge of rare diseases by Neveen A. Soliman, John A. Sayer

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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

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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

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Cerebral vein thrombosis as the initial presentation of acute promyelocytic leukemia (APML) by Fizza Zulfiqar, Noora Khadoori, Lisa Deptula, Geetha Krishnamoorthy

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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

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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

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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

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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-... by Tsuyoshi Matsumura, Takayasu Fukudome, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Kazuhiko Segawa, Ruriko Kitao, Chigusa Watanabe, Takuhisa Tamura, Toshiaki Takahashi, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Masanori Asakura, Koichi Kimura, Yuko Iwata

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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

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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

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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

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