Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Tsina
Efthymia K
EK
Department of Ophthalmology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.
Marsden
Deborah L
DL
Hansen
Ronald M
RM
Fulton
Anne B
AB
D000592:Amino Acid Metabolism, Inborn Errors; D001622:Betaine / Q000627:therapeutic use; D003038:Cobamides / Q000172:deficiency; D005260:Female; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D007223:Infant; D008266:Macula Lutea / Q000473:pathology*; D008715:Methionine / Q000627:therapeutic use; D008764:Methylmalonic Acid / Q000652:urine*; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology* / Q000503:physiopathology; D014785:Vision, Ocular; D014792:Visual Acuity; D014806:Vitamin B 12 Deficiency / Q000150:complications*
D003038:Cobamides; D006710:Homocysteine; D001622:Betaine; D008764:Methylmalonic Acid; D008715:Methionine; D006879:Hydroxocobalamin