Results 51 to 60 of about 26,855 (306)
Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism
Proceedings of Singapore Healthcare, 2010 Seizures occur more frequently in the neonatal period than in the remainder of childhood. Neonatal seizures can have different aetiologies. Inborn errors of metabolism are rare causes of seizures in the newborn.
Derrick Wei Shih Chan B Med Sci, MRCPCH (UK) +2 more
doaj +1 more source
The enigma of periorificial desquamating lesions in a child
Indian Dermatology Online Journal, 2023 Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index
Ankita Choudhary +3 more
doaj +1 more source
Advanced Science, EarlyView.In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou +10 more
wiley +1 more source
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 +6 more
wiley +1 more source
INBORN ERRORS OF METABOLISM AND METABOLIC WORK-UP IN AUTISM SPECTRUM DISORDERS
Slovenska pediatrija, 2021 Autism spectrum disorders are complex developmental dis-orders characterised by disturbances in social interactions, verbal and non-verbal communication and imagination.
Anja Krivec Penič +3 more
doaj +1 more source
Advanced Science, EarlyView.This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li +11 more
wiley +1 more source
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +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 +8 more
wiley +1 more source
Impaired biotin status in anticonvulsant therapy [PDF]
, 1982 In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour +7 more
core +1 more source