We describe an inborn error of vitamin B12 metabolism in an infant who had severe
developmental delay, megaloblastic anemia, and homocystinuria. There was no evidence of …

A male infant with methyl‐B12 deficiency (cblE) presented at age 6 weeks with lethargy,
staring spells, and vomiting. He later became hypotonic and unrespon sive to stimuli and …

Cultured fibroblasts from a recently described patient with homocystinuria and megaloblastic
anemia of infancy without methylmalonic aciduria were previously shown to have normal …

We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and
neurologic dysfunction that included developmental delay and tonic seizures. There was no …

An infant is described who died at seven and one half weeks of age and whose clinical
manifestations included poor feeding, hematemesis, melena, normocytic anemia and failure …

1. The case is described of a child with retarded physical and mental development, recurrent
megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism …

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or
megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental …

The metabolism of vitamin B~ 2 by mammalian cells is complex, involving endocytosis of
vitamin Bt2 bound to plasma transcobalamin II, removal of the vitamin from the binding …

The case is described of an infant who suffered from progressive. severe dystrophy.
hemolytic and megaloblastic anemia. hematuria. proteinuria and slight uremia. He died at 4 …

The case is described of an infant who suffered from progressive, severe dystrophy,
hemolytic and megaloblastic anemia, hematuria, proteinuria and slight uremia. He died at 4 …