Blar i Bergen Open Research Archive på tidsskrift "Orphanet Journal of Rare Diseases"
Viser treff 1-11 av 11
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Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services
(Peer reviewed; Journal article, 2012-12-10)Background: The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria ... -
European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service
(Conference poster, 2010-10-19) -
Holt Oram syndrome: a registry-based study in Europe
(Peer reviewed; Journal article, 2014-10-25)Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from ... -
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
(Peer reviewed; Journal article, 2013-01-03)Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ... -
A multicenter study on Leigh syndrome: disease course and predictors of survival
(Peer reviewed; Journal article, 2014-04-15)Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most ... -
Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study
(Journal article; Peer reviewed, 2022)Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ... -
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: A nationwide cohort study
(Peer reviewed; Journal article, 2019-04-03)Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but ... -
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
(Journal article; Peer reviewed, 2023)Background Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). Objective/methods BRIDGE is a phase 3 open-label, ... -
Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study
(Journal article; Peer reviewed, 2020)Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general ... -
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
(Peer reviewed; Journal article, 2014-09-26)Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ... -
Survival of children with rare structural congenital anomalies: a multi-registry cohort study
(Journal article; Peer reviewed, 2022)Background Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children ...