Add to ORKGAtaxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E
Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven fam...
In 1950, Bassen and Kornzweig described a condition characterized by acanthocytosis, pigmentary reti...
Two adults are described who developed a progressive neurological disorder more than 20 years after ...
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is cau...
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries...
SummaryAtaxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare...
14 p., figuras y bibliografíaAtaxia with isolated vitamin E deficiency (AVED) is a rare autosomal re...
International audienceA 24-year-old male, who suffered since childhood from a progressive form of at...
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due...
Vitamin E deficiency is known to result mainly in a spinocerebellar syndrome and involvement of the ...
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorde...
ObjectiveaaAtaxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disord...
We report an atypical neurophysiologic pattern of isolated vitamin E deficiency in a 13-year-old boy...
Abstract A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled...
A progressive limb and gait ataxia, distal loss of proprioception and vibration sense, and areflexia...
Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven fam...
In 1950, Bassen and Kornzweig described a condition characterized by acanthocytosis, pigmentary reti...
Two adults are described who developed a progressive neurological disorder more than 20 years after ...
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is cau...
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries...
SummaryAtaxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare...
14 p., figuras y bibliografíaAtaxia with isolated vitamin E deficiency (AVED) is a rare autosomal re...
International audienceA 24-year-old male, who suffered since childhood from a progressive form of at...
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due...
Vitamin E deficiency is known to result mainly in a spinocerebellar syndrome and involvement of the ...
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorde...
ObjectiveaaAtaxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disord...
We report an atypical neurophysiologic pattern of isolated vitamin E deficiency in a 13-year-old boy...
Abstract A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled...
A progressive limb and gait ataxia, distal loss of proprioception and vibration sense, and areflexia...
Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven fam...
In 1950, Bassen and Kornzweig described a condition characterized by acanthocytosis, pigmentary reti...
Two adults are described who developed a progressive neurological disorder more than 20 years after ...