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Research
Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...
Orphanet Journal of Rare Diseases 2017 12:156
Published on: 19 September 2017
Research
We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation betwe...
Orphanet Journal of Rare Diseases 2017 12:155
Published on: 15 September 2017
Review
Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conduc...
Orphanet Journal of Rare Diseases 2017 12:154
Published on: 11 September 2017
Letter to the Editor
Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...
Orphanet Journal of Rare Diseases 2017 12:153
Published on: 7 September 2017
Research
Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, i...
Orphanet Journal of Rare Diseases 2017 12:150
Published on: 6 September 2017
Research
Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to...
Orphanet Journal of Rare Diseases 2017 12:151
Published on: 6 September 2017
Research
The aim of this study was to assess in amyloidosis prevalence in Korea between 2006 and 2015.
Orphanet Journal of Rare Diseases 2017 12:152
Published on: 6 September 2017
Research
Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considere...
Orphanet Journal of Rare Diseases 2017 12:148
Published on: 31 August 2017
Research
Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopat...
Orphanet Journal of Rare Diseases 2017 12:149
Published on: 31 August 2017
Research
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...
Orphanet Journal of Rare Diseases 2017 12:146
Published on: 30 August 2017
Review
Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes ...
Orphanet Journal of Rare Diseases 2017 12:147
Published on: 30 August 2017
Research
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especiall...
Orphanet Journal of Rare Diseases 2017 12:145
Published on: 25 August 2017
Research
Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme re...
Orphanet Journal of Rare Diseases 2017 12:144
Published on: 24 August 2017
Research
The unmet medical needs of individuals with very rare diseases are high. The clinical trial designs and evaluation methods used for ‘regular’ drugs are not applicable in the clinical development of ultra-orpha...
Orphanet Journal of Rare Diseases 2017 12:143
Published on: 23 August 2017
Research
CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability i...
Orphanet Journal of Rare Diseases 2017 12:142
Published on: 22 August 2017
Research
The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain.
Orphanet Journal of Rare Diseases 2017 12:141
Published on: 18 August 2017
Position statement
A number of papers have proposed or evaluated the delayed-start design as an alternative to the standard two-arm parallel group randomized clinical trial (RCT) design in the field of rare disease. However the ...
Orphanet Journal of Rare Diseases 2017 12:140
Published on: 17 August 2017
Research
Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and p...
Orphanet Journal of Rare Diseases 2017 12:139
Published on: 16 August 2017
Research
Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studi...
Orphanet Journal of Rare Diseases 2017 12:138
Published on: 10 August 2017
Position statement
With the Cross-Border Healthcare Directive (2011/24/EU) a mandatory framework was established to foster cooperation on a voluntary basis, within European Reference Networks (ERNs). These networks are composed ...
Orphanet Journal of Rare Diseases 2017 12:137
Published on: 7 August 2017
Research
Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular ...
Orphanet Journal of Rare Diseases 2017 12:136
Published on: 4 August 2017
Letter to the Editor
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive l...
Orphanet Journal of Rare Diseases 2017 12:135
Published on: 1 August 2017
Letter to the Editor
Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is cu...
Orphanet Journal of Rare Diseases 2017 12:134
Published on: 1 August 2017
Research
Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case ser...
Orphanet Journal of Rare Diseases 2017 12:133
Published on: 25 July 2017
Research
Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was la...
Orphanet Journal of Rare Diseases 2017 12:132
Published on: 19 July 2017
