Results 81 to 90 of about 12,812 (223)

Characterization of yeast genes homologous to human genes involved in mitochondrial and peroxisomal function [PDF]

, 2005
Poster da comunicação apresentada no "Congresso Nacional de Microbiologia e Biotecnologia (Micro’05-Biotec’05)", na Póvoa de Varzim, Portugal, em 2005.The Saccharomyces cerevisiae genes YPR004c, YGR207c, YOR356w and YDR036c homologous to human genes ...
Oliveira, Rui Pedro Soares de, Rodrigues, Aurora, Vasconcelos, Filipe   +2 more
core  

Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte [PDF]

, 2016
Taust. 1993. aastast alates on Eestis vastsündinuid sõeluuritud fenüülketonuuria ja 1996. aastast alates kaasasündinud hüpotüreoosi suhtes. Enamikus arenenud riikides kasutatakse vastsündinute sõeltestimisel tandem-mass-spektromeetriat, mis võimaldab ...
Ilo, Ursula, Kriisa, Annika, Künnapas, Kadi, Muru, Kai, Reinson, Karit, Vals, Mari-Anne, Õunap, Katrin   +6 more
core   +2 more sources

Glutaryl-CoA dehydrogenase misfolding in glutaric acidemia type 1 [PDF]

, 2023
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso, Madalena, Danecka, Marta K., Gersting, Søren W., Gertzen, Marcus, Muntau, Ania C., Preisler, Heike, Puchwein-Schwepcke, Alexandra F., Reiss, Dunja D., Sturm, Andreas   +8 more
core   +1 more source

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Journal of Inherited Metabolic Disease, 2022
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and ...
N. Boy, C. Mühlhausen, E. Maier, D. Ballhausen, M. Baumgartner, S. Beblo, P. Burgard, K. Chapman, D. Dobbelaere, Jana Heringer-Seifert, S. Fleissner, K. Grohmann-Held, G. Hahn, I. Harting, G. Hoffmann, F. Jochum, D. Karall, Vassiliki Konstantopoulous, M. Krawinkel, M. Lindner, E. Märtner, J. Nuoffer, J. Okun, B. Plecko, Roland Posset, Katja Sahm, S. Scholl-Bürgi, E. Thimm, Magdalena Walter, Monique Williams, S. Dahl, Athanasia Ziagaki, J. Zschocke, S. Kölker   +33 more
semanticscholar   +1 more source

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

Frontiers in Pediatrics, 2023
This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene.
Gaopin Yuan, Xiaohong Zhang, Tingli Chen, Jiansheng Lin   +3 more
doaj   +1 more source

Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing [PDF]

Journal of Clinical and Diagnostic Research
An infant initially suspected to have glutaric aciduria was later diagnosed with Cantu syndrome and found to be a carrier of Congenital Disorder of Glycosylation Type 1j.
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan   +3 more
doaj   +1 more source

Classic imaging features of L-2-hydroxyglutaric aciduria in young adult presenting as seizures associated with fever

Annals of Indian Academy of Neurology, 2020
L-2 Hydroxyglutaric aciduria is a rare metabolic disorder which is autosomal recessive in inheritance. It is characterised by the increased urinary excretion of L-2 hydroxyglutaric acid and the diagnosis is based on the increased levels of the L-2 ...
Suresh Kumar, Shikha Bhatia, Mukesh Surya, Sanjiv Sharma   +3 more
doaj   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source