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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

The effect of vitamin supplementation on neurodevelopmental and clinical outcomes in very low birth weight and very preterm infants: A systematic review and meta-analysis. [PDF]

PLoS One
Bronnert A, Bloomfield PM, Páramo LD, Lin L, Bloomfield FH, Cormack BE.   +5 more
europepmc   +1 more source

Dietary vitamin intake and its association with hypertension (HPT) among Malaysian adults. [PDF]

Sci Rep
Md Isa Z, Ja'afar MH, Ismail R, Mohd Tamil A, Ismail NH, Mat Nasir N, Hoh BP, Ab Razak NH, Zainol Abidin N, Yusof KH.   +9 more
europepmc   +1 more source

VITAMINS

American Journal of Public Health, 1923
openaire   +3 more sources

The reverse association between riboflavin intake and Helicobacter pylori infection in US adults: A cross-sectional study. [PDF]

PLoS One
Xu X, Chen P, Li Y, Chen X, Yan Y, Huang Z.   +5 more
europepmc   +1 more source

Medication use in the neonatal intensive care unit in a tertiary hospital in China from 2020 to 2023. [PDF]

Ital J Pediatr
Wang Y, Song L, Wang Y, Li J, Xie Y, Yan L, Zhou H, Hu S.   +7 more
europepmc   +1 more source

Underestimated pyridoxine consumption and neurotoxicity: a novel manifestation with rheumatologic relevance - a case-based review. [PDF]

Rheumatol Int
Kościńska-Shukla I, Jaskólska M, Grochowalska K, Okrój M, Chmielewski M.   +4 more
europepmc   +1 more source

Atypical retinopathy as an important clue for abetalipoproteinemia diagnosis in a low-income setting.

Oman J Ophthalmol
Ali IFM, Raja AR, Malik MB, Siddiqui MAR.   +3 more
europepmc   +1 more source

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Vitamins | Vitamin B6

2011
Vitamin B6 represents a group of substances with vitamin B activity and these substances are derivatives of 3-hydroxy-2-methylpyridine: pyridoxine (alcohol), pyridoxal (aldehyde), and pyridoxamine (amine), and their 5′-phosphorylated forms. Pyridoxal-5′-phosphate serves mainly as a coenzyme for about 100 enzymes in amino acid metabolism including ...
D. Nohr, H.K. Biesalski, E.I. Back
openaire   +2 more sources