Review
Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to...
Orphanet Journal of Rare Diseases 2017 12:164
Published on: 16 October 2017
Research
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 u...
Orphanet Journal of Rare Diseases 2017 12:163
Published on: 16 October 2017
Review
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreate...
Orphanet Journal of Rare Diseases 2017 12:162
Published on: 12 October 2017
Research
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replace...
Orphanet Journal of Rare Diseases 2017 12:161
Published on: 3 October 2017
Letter to the Editor
A differential diagnosis must be made between transient yellow discoloration of the nails and yellow nail syndrome. We highlight some practical aspects of yellow nail discoloration.
Orphanet Journal of Rare Diseases 2017 12:159
Published on: 2 October 2017
Research
Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.
Orphanet Journal of Rare Diseases 2017 12:160
Published on: 2 October 2017
Research
Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual s...
Orphanet Journal of Rare Diseases 2017 12:158
Published on: 26 September 2017
Research
To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency ...
Orphanet Journal of Rare Diseases 2017 12:157
Published on: 25 September 2017
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
