Results 81 to 90 of about 51,822 (359)

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism [PDF]

, 2023
Nina N. Stolwijk, Annet M. Bosch, Natalja Bouwhuis, Johannes Häberle, Clara van Karnebeek, Francjan J. van Spronsen, Mirjam Langeveld, Carla E. M. Hollak   +7 more
openalex   +1 more source

ATF5‐Dependent GDF15 Expression Mediates Anesthesia‐Induced Neuroprotection Against Stroke

Advanced Science, EarlyView.
Anesthesia‐induced preconditioning protects against perioperative stroke. By manipulating ATF5 in excitatory neurons, it is shown that anesthesia‐driven ATF5 upregulation activates the mitochondrial unfolded protein response (UPRmt) and elevates GDF15 expression.
Xianshu Ju, Tao Zhang, Jianchen Cui, Yulim Lee, Suho Lee, Ho Min Kim, Boohwi Hong, Jiho Park, Chul Hee Choi, Hyon‐Seung Yi, Jun Young Heo, Woosuk Chung   +11 more
wiley   +1 more source

Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism

Advanced Science, EarlyView.
Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards, Ella‐May Hards, Sofia N. dos Santos, Hannah E. Greenwood, Madeleine E. George, Andrea Emanuelli, Muhammet Tanc, Thomas R. Eykyn, Timothy H. Witney   +8 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Fucosidosis: clinical and molecular findings of Turkish patients

The Turkish Journal of Pediatrics, 2022
Background. Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L- fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings ...
Merve Emecen Şanlı, Serap Uysal
doaj   +1 more source

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.

Annals of Translational Medicine, 2018
Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated ...
Marisha G Agana, Julia Frueh, M. Kamboj, D. Patel, S. Kanungo   +4 more
semanticscholar   +1 more source

A Forward Genetics Strategy for High‐Throughput Gene Identification via Precise Image‐Based Phenotyping of an Indexed EMS Mutant Library

Advanced Science, EarlyView.
The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang, Fujun Sun, Zeyu Shi, Yufeng Yang, Yi Ding, Tengteng Zhang, Caihong Zhao, Jingzhong Xie, Yaqian Zhang, Caihua Li, Wenqiang Tang, Junming Li, Xigang Liu, Shusong Zheng, Ni Jiang, Fei He, Shuzhi Zheng   +16 more
wiley   +1 more source