Results 21 to 30 of about 45,763 (247)

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

Orphanet Journal of Rare Diseases, 2021
Background China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years.
Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu, Shuyang Zhang, the Administrative Group of National Rare Diseases Registry System of China   +14 more
doaj   +1 more source

Expert Consensus on Assessment for Rehabilitation and Treatment of Musculoskeletal Complications of Hemophilia in China

罕见病研究, 2022
Hemophilia is a group of hereditary hemorrhagic diseases. Hemorrhages mostly occur in musculoskeletal system and is the main cause for disability. Rehabilitation plays an important role in the comprehensive management in hemophilia.
Hemophilia Treatment Center Collaborative Network of China, China Alliance for Rare Diseases, Hemophilia Subcommittee   +1 more
doaj   +1 more source

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

Orphanet Journal of Rare Diseases, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía, Antoni Riera-Mestre, for the RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine   +12 more
doaj   +1 more source

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss

Genome Medicine, 2023
Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion.
Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +13 more
doaj   +1 more source

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source

A rare presentation of a rare disease [PDF]

Journal of Clinical Pathology, 2003
A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
H Shaikh, Y Steppeler
openaire   +2 more sources

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks

Orphanet Journal of Rare Diseases, 2022
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events.
Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga, Francisco H. Nociti   +7 more
doaj   +1 more source

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

Journal of Biochemical and Clinical Genetics, 2019
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT).
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini   +11 more
doaj   +1 more source

Collecting rare diseases [PDF]

F1000Research, 2014
This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
openaire   +3 more sources

Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis

Scientific Reports, 2021
Aberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is enzymatically
James C. Dodge, Jinlong Yu, S. Pablo Sardi, Lamya S. Shihabuddin   +3 more
doaj   +1 more source