Results 11 to 20 of about 45,763 (247)

Lipedema, a Rare Disease [PDF]

Annals of Rehabilitation Medicine, 2011
Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Bae Wook Shin, Young Joo Sim, Ghi Chan Kim, Ho Joong Jeong   +3 more
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Learning from the Pandemic to Improve Care for Vulnerable Communities: The Perspectives and Recommendations from the Rare Disease Community

International Journal of Integrated Care, 2021
The COVID-19 pandemic has brought about health and social care disruptions for millions of people with complex health needs and disabilities, who are amongst the most vulnerable populations. More than ever before, the need for integrated care is pressing,
Raquel Castro, Erwan Berjonneau, Sandra Courbier   +2 more
doaj   +1 more source

Ollier's Disease - Rare Presentation of the Rare Disease.

Journal of orthopaedic case reports, 2021
Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease.A 13-year-old male with multiple ...
Singh, Sukhmin, Dhingra, Mohit, Verma, Aman, Moger, Nagaraj Manju, Raja, Balgovind S   +4 more
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mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

Nature Communications, 2021
Glycogen Storage Disease 1a (Gsd1a) is an inherited disorder caused by glucose 6-phosphatase (G6Pase-α) deficiency and characterized by hypoglycaemia and high risk of liver cancer.
Jingsong Cao, Minjung Choi, Eleonora Guadagnin, Maud Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, Ling Yin, Andrea Frassetto, Anne-Renee Graham, Kristine Burke, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, Becca Levy, Gilles Besin, Meredith Wolfrom, Barbara Tran, Christopher Tunkey, Erik Owen, Joe Sarkis, Athanasios Dousis, Vladimir Presnyak, Christopher Pepin, Wei Zheng, Lei Ci, Marjie Hard, Edward Miracco, Lisa Rice, Vi Nguyen, Mike Zimmer, Uma Rajarajacholan, Patrick F. Finn, Gilles Mithieux, Fabienne Rajas, Paolo G. V. Martini, Paloma H. Giangrande   +39 more
doaj   +1 more source

A rare disease. [PDF]

Critical care (London, England), 2007
Thrombocytopenia is a common finding in critically ill patients. Heparin-induced thrombocytopenia is an infrequent cause of a low platelet count. Intensivists should use the diagnostic classification system developed by the International Society on Thrombosis and Haemostasis to diagnose heparin-induced thrombocytopenia.
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Rare diseases and now rare data? [PDF]

Nature Reviews Genetics, 2013
Rare disease research is threatened by proposed changes to European privacy laws. Rare disease research is threatened by proposed changes to European privacy laws.
Deborah Mascalzoni, Bartha Maria Knoppers, Ségolène Aymé, Matteo Macilotti, Hugh Dawkins, Simon Woods, Mats G. Hansson   +6 more
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Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model

Scientific Reports, 2021
Mutations in GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genetic risk factor for developing synucleinopathies including Parkinson’s disease (PD).
Catherine Viel, Jennifer Clarke, Can Kayatekin, Amy M. Richards, Ming Sum R. Chiang, Hyejung Park, Bing Wang, Lamya S. Shihabuddin, S. Pablo Sardi   +8 more
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Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
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Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge, Bilginer, Yelda, Özen, Seza   +2 more
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Glucosylceramide synthase inhibition reduces ganglioside GM3 accumulation, alleviates amyloid neuropathology, and stabilizes remote contextual memory in a mouse model of Alzheimer’s disease

Alzheimer’s Research & Therapy, 2022
Background Gangliosides are highly enriched in the brain and are critical for its normal development and function. However, in some rare neurometabolic diseases, a deficiency in lysosomal ganglioside hydrolysis is pathogenic and leads to early-onset ...
James C. Dodge, Thomas J. Tamsett, Christopher M. Treleaven, Tatyana V. Taksir, Peter Piepenhagen, S. Pablo Sardi, Seng H. Cheng, Lamya S. Shihabuddin   +7 more
doaj   +1 more source