Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
Steen
C
C
University Children's Hospital, Hamburg, Germany.
Rosenblatt
D S
DS
Scheying
H
H
Braeuer
H C
HC
Kohlschütter
A
A
D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000172:deficiency*; D000328:Adult; D000749:Anemia, Megaloblastic / Q000209:etiology*; D001927:Brain Diseases / Q000209:etiology*; D006712:Homocystinuria / Q000209:etiology*; D006801:Humans; D008297:Male; D008715:Methionine / Q000097:blood*; D014805:Vitamin B 12 / Q000378:metabolism*
D008715:Methionine; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D014805:Vitamin B 12