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Orphanet Journal of Rare Diseases
IF
3.69
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1896
Papers 2035
1 page of 204 pages (2,035 results)
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#1Aline Azabdaftari (Charité)
#2Markus van der Giet (Charité)H-Index: 26
Last.Uwe Querfeld (Charité)H-Index: 30
view all 6 authors...
Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the cardiovascular phenotype in adult patients with PKU by clinical and dietary data, measurements of biochemical markers, and non-invasive examination of vascular functions. Twenty-three adult patients with PKU (age: 18–47 y; 30.8 ± 8.4 y) and 28 healthy controls (age: 18–47 y; 30.1 ± 9.1 y) we...
#1Naoki Suzuki (Tohoku University)H-Index: 46
Last.Hirofumi Kusaka (Kansai Medical University)H-Index: 26
view all 24 authors...
Background Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, sIBM was classified as an intractable disease by the Japanese government, and the treatment cost was partly covered by the government. This study aimed to examine the changes in the number of patients with sIBM over the last 10 years and to elucidate the cross-sectional profile o...
#1Robert J. Pignolo (Mayo Clinic)H-Index: 29
#2Geneviève Baujat (Necker-Enfants Malades Hospital)H-Index: 24
Last.Amy WilsonH-Index: 2
view all 13 authors...
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.
#1Cristina Domínguez-González (ISCIII: Instituto de Salud Carlos III)H-Index: 4
Last.Montse OlivéH-Index: 26
view all 24 authors...
Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity.
Background MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in cross border healthcare. MetabERN associates 69 centres in 18 countries, which provide care for patients with Hereditary Metabolic Diseases, and have the mission to reinforce research and provide training for health professionals in this field. MetabERN performed a survey in December 2017 with the aim to produce an overview documenting research acti...
#1M. E. Rubio-Gozalbo (Maastricht University Medical Centre)
#2M. Haskovic (Maastricht University Medical Centre)
Last.Terry G. J. Derks (UMCG: University Medical Center Groningen)H-Index: 14
view all 43 authors...
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to moni...
#1Heike Hoyer-Kuhn (University of Cologne)H-Index: 9
#2M. Rehberg (University of Cologne)H-Index: 1
Last.Oliver Semler (University of Cologne)H-Index: 19
view all 5 authors...
Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoliosis, short stature and nonskeletal findings as blue sclera, hypermobility of joints, bone pain and delayed motor function development. Bisphosphonates are used in most moderate and severely affected patients assuming that an increase of bone mineral density might reduce fractures and bo...
#1Rana Yadak (Erasmus University Medical Center)H-Index: 3
#2Marjolein Breur (VUmc: VU University Medical Center)H-Index: 8
Last.Marianna Bugiani (VUmc: VU University Medical Center)H-Index: 1
view all 3 authors...
Background MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, they are not resolved with the current treatment interventions. Recently, our understanding of the GI pathology has increased, which rationalizes the pursuit of more targeted therapeutic strategies. In particular...
#1Toshiya Nomura (Kumamoto University)H-Index: 3
#2Mitsuharu Ueda (Kumamoto University)H-Index: 23
Last.Kyosuke Kanenawa (Kumamoto University)
view all 17 authors...
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is caused by a variant transthyretin (TTR), which is a serum protein secreted by the liver. Mass spectrometry (MS) is a useful tool that can detect variant TTRs in serum samples from patients with ATTRv amyloidosis. We previously reported several mass spectrometric methods to detect variant TTRs in serum samples. Those methods require cumbersome immunoprecipitation with anti-TTR antibodies and significant time to analyze the variant TTRs. ...
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