Abstract：
:China is facing the great challenge of serving the world's largest rare disease population. It is necessary to develop a specific medical plan to increase the levels of optimal prevention, diagnosis and treatment of rare diseases under the existing clinical service structures in China. In 2013, China launched its first pilot project focused on 20 representative rare diseases. A national network including approximately 100 provincial or municipal medical centers has been established to enable collaboration on rare diseases across China. The main objectives for this project are to develop and apply medical guidelines and clinical pathways for rare diseases, to establish a rare disease patient registry and data repository system, and to promote molecular testing for rare genetic disorders. This project also emphasizes building close links among the collaborative network, clinicians on the frontlines in basic medical services institutions and rare disease patient organizations. Primarily, this project expects to develop an actionable medical services plan to increase the delivery of quality healthcare for individuals and families living with rare diseases in China within five years.
journal_name
Orphanet J Rare Disjournal_title
Orphanet journal of rare diseasesauthors
Cui Y,Zhou X,Han Jdoi
10.1186/1750-1172-9-14subject
Has Abstractpub_date
2014-01-27 00:00:00pages
14issn
1750-1172pii
1750-1172-9-14journal_volume
9pub_type
杂志文章abstract：UNLABELLED:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, randomized, crossover, ...
journal_title：Orphanet journal of rare diseases
pub_type： 信件,随机对照试验
doi：10.1186/s13023-016-0411-5
更新日期：2016-03-25 00:00:00
abstract：BACKGROUND:Skin neurofibromas represent one of the main clinical manifestations of neurofibromatosis 1, and their number varies greatly between individuals. Quantifying their number is an important step in the methodology of many clinical studies, but counting neurofibromas one by one in individuals with thousands of t...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-014-0202-9
更新日期：2014-12-05 00:00:00
abstract：:Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come without a price, however. Many of these so-called "orphan drugs" have higher price points than treatments for...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-7-74
更新日期：2012-09-26 00:00:00
abstract：BACKGROUND:Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents. OBJECTIVES:We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1171-9
更新日期：2019-08-09 00:00:00
abstract：BACKGROUND:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-7-64
更新日期：2012-09-07 00:00:00
abstract：BACKGROUND:Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two gene...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-6-74
更新日期：2011-11-13 00:00:00
abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-019-1281-4
更新日期：2020-01-07 00:00:00
abstract：BACKGROUND:Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare disease, characterized by the massive accumulation of triglyceride (TG) in multiple tissues, especially skeletal muscle, heart muscle and the coronary artery. TGCV is caused by mutation of adipose triglyceride lipase, which is an essential molecule ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-197
更新日期：2013-12-21 00:00:00
abstract：:Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-2-47
更新日期：2007-11-26 00:00:00
abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1189-z
更新日期：2019-12-11 00:00:00
abstract：AIM:To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. BACKGROUND:FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neurop...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1290-3
更新日期：2020-01-13 00:00:00
abstract：:Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine d...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-7-48
更新日期：2012-07-25 00:00:00
abstract：BACKGROUND:The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what p...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1123-4
更新日期：2019-07-12 00:00:00
abstract：:Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-2-33
更新日期：2007-07-26 00:00:00
abstract：BACKGROUND:Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS:Observational, cross-sectional and multicenter study. Clinical, biochemical and gene...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,多中心研究
doi：10.1186/s13023-014-0187-4
更新日期：2014-11-30 00:00:00
abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-92
更新日期：2013-06-25 00:00:00
abstract：BACKGROUND:Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and fee...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1265-4
更新日期：2019-12-04 00:00:00
abstract：:Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-017-0616-2
更新日期：2017-04-04 00:00:00
abstract：BACKGROUND:Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposm...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1079-4
更新日期：2019-05-10 00:00:00
abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-016-0405-3
更新日期：2016-03-17 00:00:00
abstract：BACKGROUND:Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare cancers. In order to provide more insights in drugs for rare neoplastic disorders that are under devel...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0578-4
更新日期：2017-02-16 00:00:00
abstract：BACKGROUND:Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Scl...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,meta分析,评审
doi：10.1186/s13023-015-0317-7
更新日期：2015-08-12 00:00:00
abstract：:The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close collaboration with patient advocates from the various disease-areas covered in our ERN. The ERN is focused on providing more equitable care across Europe a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1152-z
更新日期：2019-07-08 00:00:00
abstract：BACKGROUND:Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and de...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1271-6
更新日期：2020-02-26 00:00:00
abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...
journal_title：Orphanet journal of rare diseases
pub_type： 临床试验,杂志文章
doi：10.1186/1750-1172-8-101
更新日期：2013-07-10 00:00:00
abstract：BACKGROUND:Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule under development for the treatment of mitochondrial(-related) diseases. The compound is a member of ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,随机对照试验
doi：10.1186/s13023-017-0715-0
更新日期：2017-10-16 00:00:00
abstract：:An amendment to this paper has been published and can be accessed via the original article. ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,已发布勘误
doi：10.1186/s13023-020-01464-y
更新日期：2020-08-05 00:00:00
abstract：BACKGROUND:Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS:In this review, we summar...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0856-9
更新日期：2018-07-11 00:00:00
abstract：:Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-1-28
更新日期：2006-07-26 00:00:00
abstract：BACKGROUND:Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. METHODS:A system...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-018-0942-z
更新日期：2018-11-12 00:00:00
