Associated Papers
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
Biglari S et al.
Clinical Genetics, 2025
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
38535124 (PubMed )
Supplement: IJNS-10-00020-s001.zip › 20231205_Supplementary_files_definitief_nieuwerefs.pdf
Chloroplast-localized PITP7 is essential for plant growth and photosynthetic function in Arabidopsis.
Kim EH et al.
Physiologia Plantarum, 2022
36004734 (PubMed )
Supplement: PPL-174-0-s002.pdf
Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency.
Bromley D et al.
Biochemistry, 2013
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.
Fernández-Burriel M et al.
Pediatric Research, 2008
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.
Qian J et al.
Biochemistry, 2006
Molecular mechanisms of vitamin E transport.
Stocker A
Annals of the New York Academy of Sciences, 2004
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004
Molecular determinants of heritable vitamin E deficiency.
Morley S et al.
Biochemistry, 2004
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Triepels RH et al.
Annals of Neurology, 1999
[Vitamin E deficiency ataxia in a family with possible cardiac involvement].
Lucas-Del-Pozo S et al.
Neurologia, 0
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