Results 21 to 30 of about 443 (126)

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

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

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

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, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki   +10 more
wiley   +1 more source

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

BMC Pediatrics, 2019
Background This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency,
Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti   +4 more
doaj   +1 more source

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

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, Jaak Jaeken, Peter M. van Hasselt   +2 more
wiley   +1 more source

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency

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, Alessandra Romeo, Rossella Gratton, Sergio Crovella, Fulvio Celsi   +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, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster   +4 more
openaire   +1 more source

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

Frontiers in Immunology, 2019
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase.
Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, David Coman, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers   +10 more
doaj   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source