title: Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
authors.affiliation: University Children's Hospital, Hamburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Steen
authors.forename: D S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: H
authors.initials: H
authors.lastname: Scheying
authors.forename: H C
authors.initials: HC
authors.lastname: Braeuer
authors.forename: A
authors.initials: A
authors.lastname: Kohlschütter
mesh_terms: 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*
chemical_list: D008715:Methionine; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D014805:Vitamin B 12