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Research
A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...
Orphanet Journal of Rare Diseases 2017 12:119
Published on: 28 June 2017
Research
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 d...
Orphanet Journal of Rare Diseases 2017 12:118
Published on: 28 June 2017
Research
Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals e...
Orphanet Journal of Rare Diseases 2017 12:121
Published on: 28 June 2017
Research
Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and...
Orphanet Journal of Rare Diseases 2017 12:120
Published on: 28 June 2017
Position statement
Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there ar...
Orphanet Journal of Rare Diseases 2017 12:117
Published on: 26 June 2017
Research
Hirschsprung’s disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung’s dise...
Orphanet Journal of Rare Diseases 2017 12:116
Published on: 20 June 2017
Research
The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of drugs that treat rare diseases. This analysis studies the effects of a portion of the Orp...
Orphanet Journal of Rare Diseases 2017 12:114
Published on: 19 June 2017
Research
Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs ra...
Orphanet Journal of Rare Diseases 2017 12:115
Published on: 19 June 2017
Review
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cogn...
Orphanet Journal of Rare Diseases 2017 12:113
Published on: 17 June 2017
Review
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...
Orphanet Journal of Rare Diseases 2017 12:112
Published on: 15 June 2017
Research
Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease...
Orphanet Journal of Rare Diseases 2017 12:111
Published on: 15 June 2017
Position statement
Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also...
Orphanet Journal of Rare Diseases 2017 12:110
Published on: 12 June 2017
Research
Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumul...
Orphanet Journal of Rare Diseases 2017 12:109
Published on: 8 June 2017
Research
Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have ...
Orphanet Journal of Rare Diseases 2017 12:108
Published on: 2 June 2017
Research
Severe haemophilia is associated with major psychological and economic burden for patients, caregivers, and the wider health care system. This burden has been quantified and documented for a number of European...
Orphanet Journal of Rare Diseases 2017 12:106
Published on: 31 May 2017
Letter to the Editor
A new approach has been designed at the Bambino Gesù Children’s Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is ch...
Orphanet Journal of Rare Diseases 2017 12:107
Published on: 31 May 2017
Research
There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently ...
Orphanet Journal of Rare Diseases 2017 12:105
Published on: 30 May 2017
Research
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...
Orphanet Journal of Rare Diseases 2017 12:104
Published on: 30 May 2017
Letter to the Editor
Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...
Orphanet Journal of Rare Diseases 2017 12:101
Published on: 25 May 2017
Research
Whipple’s disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA).
Orphanet Journal of Rare Diseases 2017 12:99
Published on: 25 May 2017
Position statement
In planning a clinical trial for demonstrating the efficacy of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients we had to discuss the need for a randomized controlled trial part...
Orphanet Journal of Rare Diseases 2017 12:102
Published on: 25 May 2017
Research
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the f...
Orphanet Journal of Rare Diseases 2017 12:103
Published on: 25 May 2017
Review
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capa...
Orphanet Journal of Rare Diseases 2017 12:100
Published on: 25 May 2017
Research
Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurr...
Orphanet Journal of Rare Diseases 2017 12:97
Published on: 23 May 2017
Research
This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...
Orphanet Journal of Rare Diseases 2017 12:98
Published on: 23 May 2017
