Results 21 to 30 of about 426 (123)
NMR in Biomedicine, Volume 36, Issue 4, April 2023., 2023 From the urinary spectrum, 150 metabolites are quantified fully automatically but hundreds of additional metabolites can be identified manually with computer‐assisted proposals for a final diagnosis. A multidisciplinary team decides on further genetic analysis.
Claire Cannet +10 more
wiley +1 more source
ROSAH syndrome mimicking chronic uveitis
Clinical Genetics, Volume 103, Issue 4, Page 453-458, April 2023., 2023 An autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, has been related to a unique missense variant in ALPK1 gene. The main morbidity is ophthalmological and most of the patients have been treated for years with immunosuppressive treatments ...
Christine Fardeau +10 more
wiley +1 more source
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review
Movement Disorders Clinical Practice, Volume 10, Issue 1, Page 17-31, January 2023., 2023 Abstract Background With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis ...
Emma N.M.M. von Scheibler +7 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 44, Issue 5, Page 1272-1287, September 2021., 2021 Abstract Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment.
Heiko Brennenstuhl +16 more
wiley +1 more source
The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples
Clinical and Experimental Dermatology, Volume 45, Issue 8, Page 967-973, December 2020., 2020 Summary The systemic autoinflammatory disorders (SAIDS) or periodic fever syndromes are disorders of innate immunity, which can be inherited or acquired. They are almost all very rare and easily overlooked; typically, patients will have seen multiple specialities prior to diagnosis, so a high level of clinical suspicion is key.
J. Oldham, H. J. Lachmann
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 8, Issue 10, October 2020., 2020 We performed the whole‐exome sequencing of the hepato‐encephalopathy patient with MTDPS. The functional analyses revealed the clinical significance of the identified variant. Abstract Background Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number.
Yoshihito Kishita +10 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 43, Issue 4, Page 701-711, July 2020., 2020 Abstract In the rapidly growing group of rare genetic disorders, data scarcity demands an intelligible use of available data, in order to improve understanding of underlying pathophysiology. We hypothesize, based on the principle that clinical similarities may be indicative of shared pathophysiology, that determining phenotypic specificity could ...
Hanneke A. Haijes +2 more
wiley +1 more source
Cellular Physiology and Biochemistry, 2017 Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico +4 more
doaj +1 more source
Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations [PDF]
The Open Pediatric Medicine Journal, 2009 Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (
M. Harel-Meir +4 more
openaire +1 more source
Hints for Genetic and Clinical Differentiation of Adult‐Onset Monogenic Autoinflammatory Diseases
Mediators of Inflammation, Volume 2019, Issue 1, 2019., 2019 Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long‐term ...
Carla Gaggiano +12 more
wiley +1 more source