Orphanet Journal of Rare Diseases
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Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patientsAbstract
Background
Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequency of LGMD subtypes varies among regions in China and ethnic populations... ... hiện toàn bộ
Orphanet Journal of Rare Diseases -
Primary biliary cirrhosis
Orphanet Journal of Rare Diseases - Tập 3 - Trang 1-17 - 2008
Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. Affected individuals are usually in their fifth to seventh decades of life at time of diagnosis, and 90% are women. Annual incidence is estimated between 0.7 and 49 cases per million-po...... hiện toàn bộ
“It’s not all in my head!” - The complex relationship between rare diseases and mental health problems
Orphanet Journal of Rare Diseases - Tập 12 - Trang 1-3 - 2017
The incidence of mental health disorders is significantly higher in individuals with a rare disease, compared to the general population. This letter considers the possible reasons for this in terms of the many ways in which a rare disease impacts on an individual’s life, and how these impacts can be strongly related to factors which predispose to mental health difficulties. Furthermore, issues sur...... hiện toàn bộ
Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases - Tập 13 - Trang 1-10 - 2018
In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective of the present study was to analyze carbohydrate metabolism in patients with hyperphenylalaninemia. We conducted a mult...... hiện toàn bộ
Poor prognostic factors in patients with newly diagnosed intestinal Adamantiades-Behçet’s disease in the Shanghai Adamantiades-Behçet’s disease database: a prospective cohort study
Orphanet Journal of Rare Diseases - Tập 14 - Trang 1-8 - 2019
Adamantiades-Behçet’s Disease (ABD) is an immunological recurrent systemic vasculitis with a chronic course. We investigated the predictors of long-term flare-ups, poor outcomes and event-free survival in Chinese non-surgical patients with intestinal ABD. This was a prospective cohort study of 109 intestinal ABD patients seen in our institution between October 2012 and January 2019 who met the int...... hiện toàn bộ
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1
Orphanet Journal of Rare Diseases - Tập 17 - Trang 1-4 - 2022
Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been charac...... hiện toàn bộ
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
Orphanet Journal of Rare Diseases - Tập 17 - Trang 1-9 - 2022
Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T...... hiện toàn bộ
The national economic burden of rare disease in the United States in 2019
Orphanet Journal of Rare Diseases - Tập 17 - Trang 1-11 - 2022
To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-person direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate the prevalence and the direct medical cost of RD, we used...... hiện toàn bộ
Epithelial thymic tumours in paediatric age: a report from the TREP project
Orphanet Journal of Rare Diseases - Tập 6 - Trang 1-5 - 2011
Thymic epithelial tumours (thymoma and carcinoma) are exceptionally rare in children. We describe a national multicentre series with a view to illustrating their clinical behaviour and the results of treatment. From January 2000 all patients under 18 years of age diagnosed with "rare paediatric tumours" were centrally registered by the Italian centres participating in the TREP project (T umori R a...... hiện toàn bộ
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Orphanet Journal of Rare Diseases - Tập 18 - Trang 1-10 - 2023
Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX is likely underdiagnosed, and prevalence estimates based on case diagnosis are probably inaccurate. Large population-based genomic databases are a valuable resource to es...... hiện toàn bộ
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