Disturbed visual system function in methionine synthase deficiency

Isolated functional methionine synthase deficiency occurs in the cblE and cblG defects of methylcobalamin metabolism and is one of a number of causes of severely elevated plasma homocysteine. Clinical features are predominantly of a neurological nature but also include functional restriction of the...

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Veröffentlicht in:	Graefe's archive for clinical and experimental ophthalmology 2005-05, Vol.243 (5), p.497-500
Hauptverfasser:	Poloschek, Charlotte M, Fowler, Brian, Unsold, Renate, Lorenz, Birgit
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - deficiency 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - genetics Electroretinography Evoked Potentials, Visual Genetic Complementation Test Humans Infant Male Retinal Cone Photoreceptor Cells - physiopathology Retinal Diseases - enzymology Retinal Diseases - physiopathology Retinal Ganglion Cells - physiology Retinal Rod Photoreceptor Cells - physiopathology Vision Disorders - physiopathology Vitamin B 12 - analogs & derivatives
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