Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0016719 (
Friedreich's ataxia
)
2,098
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neurological syndromes similar to those associated with abetalipoproteinaemia or
Friedreich's ataxia
developed in four patients with chronic steatorrhoea, two of whom had cystic fibrosis and two chronic
cirrhosis
of childhood. Serum concentrations of vitamin E were virtually undetectable in all four patients. Substantial clinical improvement occurred in one patient after restoration of normal vitamin E levels by parenteral therapy. The findings suggest that spinocerebellar degeneration may be secondary to severe and prolonged vitamin E deficiency.
...
PMID:Association of spinocerebellar disorders with cystic fibrosis or chronic childhood cholestasis and very low serum vitamin E. 611 19
