Abstract：
BACKGROUND:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting within the first six months of life, excepting the extremely rare benign perinatal hypophosphatasia. Childhood hypophosphatasia, defined as onset of symptoms between six months and eighteen years, can manifest as rickets, pain, decreased mobility, deficits of growth, and fractures. Historical treatment has generally involved a combination of dietary and rehabilitative interventions. MAIN DOCUMENT:Asfotase alfa (Strensiq™), is a first-in-class bone-targeted recombinant tissue nonspecific alkaline phosphatase which has shown significant improvements in morbidity and mortality in patients with perinatal and infantile hypophosphatasia. Subsequent research has also shown improvements in morbidity for patients with childhood hypophosphatasia as measured by improvement in rickets, growth, strength, mobility, and quality of life. This enzyme replacement therapy has generally been well-tolerated, with most adverse reactions being mild-to-moderate in nature. The author shares their approach to decisions on commencement of ERT based from experience of managing approximately fifteen patients across the age spectrum. This approach focuses on assessing the severity of five key manifestations of childhood HPP: decreased mobility, pain, rickets, deficits of growth, and fractures.
journal_name
Orphanet J Rare Disjournal_title
Orphanet journal of rare diseasesauthors
Rush ETdoi
10.1186/s13023-018-0866-7subject
Has Abstractpub_date
2018-07-16 00:00:00pages
116issue
1issn
1750-1172pii
10.1186/s13023-018-0866-7journal_volume
13pub_type
杂志文章,评审abstract：BACKGROUND:Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patient...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0702-5
更新日期：2017-08-30 00:00:00
abstract：BACKGROUND:For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to cl...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01624-0
更新日期：2021-01-12 00:00:00
abstract：BACKGROUND:There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-9-98
更新日期：2014-06-30 00:00:00
abstract：:After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below. ...
journal_title：Orphanet journal of rare diseases
pub_type： 已发布勘误
doi：10.1186/s13023-019-1084-7
更新日期：2019-05-10 00:00:00
abstract：:Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-017-0615-3
更新日期：2017-03-28 00:00:00
abstract：BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-55
更新日期：2013-04-05 00:00:00
abstract：:Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 ...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-014-0113-9
更新日期：2014-10-21 00:00:00
abstract：BACKGROUND:McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manif...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-016-0496-x
更新日期：2016-08-09 00:00:00
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 firs...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-9-14
更新日期：2014-01-27 00:00:00
abstract：:Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains ni...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-014-0179-4
更新日期：2014-11-26 00:00:00
abstract：BACKGROUND:PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS:Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0673-6
更新日期：2017-06-28 00:00:00
abstract：BACKGROUND:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-82
更新日期：2013-06-05 00:00:00
abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01407-7
更新日期：2020-05-25 00:00:00
abstract：BACKGROUND:IgG replacement therapy (IgRT) in primary immunodeficiencies (PID) is a lifelong treatment which may be administered intravenously (IVIg) or subcutaneously (SCIg), at hospital or at home. The objective of the VISAGE study was to investigate if route and/or place for IgRT impact patients' satisfaction regardi...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-016-0452-9
更新日期：2016-06-22 00:00:00
abstract：BACKGROUND:In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe. METHODS:Following a series of multidisciplinary meetings and a review o...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0800-z
更新日期：2018-04-27 00:00:00
abstract：BACKGROUND:Inherited Factor XIII deficiency (FXIIID) is one of the most severe and under-diagnosed rare bleeding disorders. Only 5 large deletions involving one or more exons in F13A1 have been reported, and lacking of multiplex ligation-dependent probe amplification (MLPA) assay might underestimate the copy number var...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1144-z
更新日期：2019-07-24 00:00:00
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: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:The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and lacks an efficient therapy. METHODS AND RESULTS:In vitro chemotherapy testing in a fluorescence ass...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-014-0126-4
更新日期：2014-08-08 00:00:00
abstract：:The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases ar...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-016-0414-2
更新日期：2016-04-16 00:00:00
abstract：BACKGROUND:Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to fac...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1221-3
更新日期：2019-11-15 00:00:00
abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-1341-9
更新日期：2020-03-06 00:00:00
abstract：BACKGROUND:The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. METHODS:A four step approach was designed. Firstly, a systematic literature review was conduct...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-016-0388-0
更新日期：2016-03-10 00:00:00
abstract：BACKGROUND:Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for orphan drugs are often smaller than those of non-orphan drugs, and they require the development of ef...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-018-0931-2
更新日期：2018-11-06 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：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...
journal_title：Orphanet journal of rare diseases
pub_type： 社论
doi：10.1186/1750-1172-9-30
更新日期：2014-02-28 00:00:00
abstract：:The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-016-0503-2
更新日期：2016-08-26 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：:The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.The correct author name has been included in the author list of this Correction article and is already updated in the original article. ...
journal_title：Orphanet journal of rare diseases
pub_type： 已发布勘误
doi：10.1186/s13023-019-1096-3
更新日期：2019-05-23 00:00:00
abstract：BACKGROUND:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-020-01352-5
更新日期：2020-04-19 00:00:00
