Results 21 to 30 of about 519 (143)

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

Frontiers in Immunology, 2021
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
doaj   +1 more source

Mevalonate kinase deficiency syndrome: Single center experience

Научно-практическая ревматология, 2021
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina   +23 more
doaj   +1 more source

Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

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, Georg Frauendienst‐Egger, Peter Freisinger, Hermann Götz, Madalina Götz, Nastassja Himmelreich, Vanessa Kock, Manfred Spraul, Christine Bus, Saskia Biskup, Friedrich Trefz   +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, Munirah Alafaleq, Claire‐Marie Dhaenens, Hélène Dollfus, Isabelle Koné‐Paut, Olivier Grunewald, Jean‐Baptiste Morel, Cherif Titah, David Saadoun, Patrice Olivier Lazeran, Isabelle Meunier   +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, Agnies M. van Eeghen, Tom J. de Koning, Mark L. Kuijf, Janneke R. Zinkstok, Annelieke R. Müller, Thérèse A.M.J. van Amelsvoort, Erik Boot   +7 more
wiley   +1 more source

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

Journal of Inherited Metabolic Disease, Volume 45, Issue 5, Page 926-936, September 2022., 2022
Abstract External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA schemes and educational activities.
Déborah Mathis, Joanne Croft, Petr Chrastina, Brian Fowler, Christine Vianey‐Saban, George J. G. Ruijter   +5 more
wiley   +1 more source

Haploidentical α/β T-cell and B-cell Depleted Stem Cell Transplantation in Severe Mevalonate Kinase Deficiency

, 2021
Objective: Mevalonic aciduria represents the most severe form of mevalonate kinase deficiency (MKD). Patients with mevalonic aciduria have an incomplete response even to high doses of anti-cytokine drugs such as anakinra or canakinumab and stem cell ...
Faraci, M, Gattorno, M, Farela Neves, J, Beccaria, A, Dell’Orso, G, Pierri, F, Giardino, S, Podestà, M, Volpi, S   +8 more
core   +2 more sources

DataSheet_1_Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.docx

, 2021
Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyo-Sang Do (11801144), Kyung-Nam Koh (10104716), Hyery Kim (306120), Beom Hee Lee (8828174), Gu-Hwan Kim (5840852), Sunghan Kang (11801147), Ho Joon Im (6822521)   +6 more
core   +1 more source

Interstitial lung disease in a newborn affected by mevalonic aciduria [PDF]

, 2019
Introduction: Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with a onset in early infancy and poor prognosis.
Ronchi Andrea, Grossi Alice, Mosca Fabio, Filocamo Giovanni, Caorsi Roberta, Volpi Stefano, Pugni Lorenza, Pietrasanta Carlo, MINOIA, FRANCESCA SERENA, Gattorno Marco, Caroli Francesco, Torreggiani Sofia, Ceccherini Isabella   +12 more
core   +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