Results 11 to 20 of about 4,732,768 (313)
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 +4 more
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Identifying Rare Events in Rare Diseases [PDF]
Clinical Cancer Research, 2015 Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F, Attiyeh, John M, Maris
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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 +1 more
doaj +1 more source
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 +8 more
doaj +1 more source
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 +2 more
openaire +3 more sources
The line between COVID-19 pandemic and rare bone diseases
, 2020 Rare diseases, Ostoporosis, Osteogenesis Imperfecta ...
Giovanni Adami +3 more
core +1 more source
Anaemia in Waldmann’s disease: A rare presentation of a rare disease
World Journal of Gastrointestinal Endoscopy, 2015 A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby +5 more
openaire +2 more sources
A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study [PDF]
, 2010 Policy debate about funding criteria for drugs used to treat rare, orphan diseases is gaining prominence. This study presents evidence from a discrete choice experiment using a convenience sample of university students to investigate individual ...
Jeremiah Hurley +5 more
core +1 more source
Complement Inhibitors in Rare Diseases
, 2022 The complement system is a self-protection mechanism of the human body. The abnormal activation of the complement system is involved in the occurrence and development of various diseases. The application of complement inhibitors in many rare diseases was
CHEN Limeng +5 more
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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 +7 more
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