Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease

J Pediatr. 1988 Dec;113(6):1052-6. doi: 10.1016/s0022-3476(88)80582-1.

Authors

M Tuchman¹, P Kelly, D Watkins, D S Rosenblatt

Affiliation

¹ Department of Pediatrics, University of Minnesota, Minneapolis 55455.

PMID: 3193313
DOI: 10.1016/s0022-3476(88)80582-1

No abstract available

Publication types

Case Reports

MeSH terms

Anemia, Macrocytic / genetics*
Anemia, Megaloblastic / drug therapy
Anemia, Megaloblastic / genetics*
Fibroblasts / metabolism
Homocystinuria / drug therapy
Homocystinuria / genetics*
Humans
Infant, Newborn
Male
Malonates / urine*
Methylmalonic Acid / urine*
Mutation*
Vitamin B 12 / pharmacokinetics
Vitamin B 12 / therapeutic use*
Vitamin B 12 Deficiency / drug therapy
Vitamin B 12 Deficiency / genetics*

Substances

Malonates
Methylmalonic Acid
Vitamin B 12