Results 51 to 60 of about 3,221 (198)

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific Reports, 2022
Untargeted metabolomics is a global molecular profiling technology that can be used to screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based on current knowledge of specific metabolic pathway deficiencies, a manual ...
Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic   +9 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

Glutaric acidemia type I. Report of a case and literature review

Iatreia, 2015
Glutaric acidemia type I (GA-1) is a neurological disease of metabolic ethiology. Although considered rare, it is one of the most frequent inborn errors of metabolism in Colombia.
Forero Sánchez, Edwin, Echeverri Peña, Olga Yaneth, Espinosa García, Eugenia, Guevara Morales, Johana María, Barrera Avellaneda, Luis Alejandro   +4 more
doaj   +1 more source

What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]

, 2019
BACKGROUND: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hart, Anthony R, Piercy, Hilary, Yap, Sufin, Yeo, Mildrid   +3 more
core   +1 more source

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

, 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 ...
Ballhausen, Diana, Baumgartner, Matthias R, Beblo, Skadi, Boy, Nikolas, Burgard, Peter, Chapman, Kimberly A, Dobbelaere, Dries, et al, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Heringer‐Seifert, Jana, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Maier, Esther M, Märtner, E M Charlotte, Mühlhausen, Chris, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique   +30 more
core   +1 more source

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise [PDF]

, 2020
Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of ...
Baumgartner, M.R. (Matthias), Dimitrov, B. (Bianca), Kölker, S. (Stefan), Molema, F. (Femke), Mühlhausen, C. (Chris), Schmiesing, J. (Jessica), Schumann, A. (Anke), Williams, M. (Monique)   +7 more
core   +1 more source

Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

Human Genomics, 2022
Background High-cost, time-consuming and complex processes of several current approaches limit the use of noninvasive prenatal diagnosis (NIPD) for monogenic disorders in clinical application. Thus, a more cost-effective and easily implementable approach
Wenman Wu, Xuanyou Zhou, Zhengwen Jiang, Dazhi Zhang, Feng Yu, Lanlan Zhang, Xuefeng Wang, Songchang Chen, Chenming Xu   +8 more
doaj   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

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

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source