Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor, sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused …
Mitochondria play a key role in cell homeostasis as a major source of intracellular energy (adenosine triphosphate), and as metabolic hubs regulating many canonical cell processes …
S Pazirandeh, DL Burns - … (consultado 2019 May 14). Disponible en …, 2015 - uptodate.com
Vitamins are a number of chemically unrelated families of organic substances that cannot be synthesized by humans and are essential in small amounts for normal metabolism. A few …
K Kaminiów, I Ryguła, J Paprocka - Metabolites, 2022 - mdpi.com
Ataxia is a movement disorder that manifests during the execution of purposeful movements. It results from damage to the structures of the cerebellum and its connections or the posterior …
JR Fennessy, KMD Cornett, GA Donlevy… - … Medicine & Child …, 2024 - Wiley Online Library
The aim of this longitudinal case series was to describe long‐term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high‐dose oral …
Ariboflavinosis is a pathological condition occurring as a result of riboflavin deficiency. This condition is treatable if detected early enough, but it lacks timely diagnosis. Critical …
V Bell, TH Fernandes - Applied Sciences, 2023 - mdpi.com
Food, not nutrients, is the fundamental unit in nutrition, and edible mushrooms are fungi that supply unique biological bioactive compounds, different from plant or animal origin, which …
J Estrella, V Wiley, D Simmons, TM Hng… - Diabetes …, 2021 - Am Diabetes Assoc
OBJECTIVE To investigate effects of maternal diabetes and metformin treatment on metabolic newborn screening (NBS) results of infants born to mothers with hyperglycemia …
DL Chaar, Z Li, L Shang, SM Ratliff, TH Mosley… - medRxiv, 2024 - medrxiv.org
Genetic variants increase the risk of neurocognitive disorders in later life including Vascular Dementia (VaD) and Alzheimer's disease (AD), but the precise relationships between …