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

“…Journal of Rare Diseases…”
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Genomic diversity: meeting the challenge of rare diseases by Neveen A. Soliman, John A. Sayer

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

“…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

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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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A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles by Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

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A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment? by Isabelle Mohr, Patrick Lamade, Christophe Weber, Viola Leidner, Sebastian Köhrer, Alexander Olkus, Matthias Lang, Andrea Langel, Patrischia Dankert, Melanie Greibich, Silke Wolf, Holger Zimmer, Patrick Michl, Aurélia Poujois, Karl Heinz Weiss, Uta Merle

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Specific plasma metabolite profile in intestinal Behçet’s syndrome by Cheng-cheng Hou, Hua-fang Bao, Chun-hui She, Hua-yu Chen, Guan-xing Pan, Hua-ning Chen, Hong-bing Rui

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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey by Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, Majdolen Istaiti, Jaco Botha, Elena Lukina, Pilar Giraldo, Patrick Deegan, Stephan vom Dahl

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Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome by Jordan T. Jones, Lora L. Black, William R. Black

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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

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PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

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