Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and …
R Carmel, SI Goodman - 1982 - ashpublications.org
We studied two brothers (JR and MR) with the cobalamin D variant of congenital
methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic …
methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic …
[HTML][HTML] Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of …
R Carmel, AA Bedros, JW Mace, SI Goodman - Blood, 1980 - Elsevier
Congenital methylmalonic aciduria-homocystinuria, a disorder with an incompletely defined
cobalamin abnormality, has not been accompanied by megaloblastosis in most of the …
cobalamin abnormality, has not been accompanied by megaloblastosis in most of the …
[引用][C] Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria
JC Linnell, B Miranda, HR Bhatt, SB Dowton… - Journal of inherited …, 1983 - Springer
METHODS Total cobalamin (Cbl) in plasma and erythrocytes was estimated by a
radioisotopic assay using human serum as binding agent (Matthews et al., 1967). MeCbl …
radioisotopic assay using human serum as binding agent (Matthews et al., 1967). MeCbl …
Vitamin B12 responsive homocystinuria and megaloblastic anemia: Heterogeneity in methylcobalamin deficiency
DS Rosenblatt, IT Thomas, D Watkins… - American journal of …, 1987 - Wiley Online Library
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 …
staring spells, and vomiting. He later became hypotonic and unrespon sive to stimuli and …
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.
D Watkins, DS Rosenblatt - The Journal of clinical …, 1988 - Am Soc Clin Investig
A number of patients with megaloblastic anemia and homocystinuria associated with low
levels of methylcobalamin synthesis in cultured cells have been recognized. Methionine …
levels of methylcobalamin synthesis in cultured cells have been recognized. Methionine …
Reversal by cobalamin therapy of minimal defects in the deoxyuridine suppression test in patients without anemia: further evidence for a subtle metabolic cobalamin …
R Carmel - The Journal of laboratory and clinical medicine, 1992 - europepmc.org
Subtle cobalamin deficiency states, where low serum cobalamin levels are not accompanied
by megaloblastic anemia or malabsorption of free cobalamin, often display metabolic …
by megaloblastic anemia or malabsorption of free cobalamin, often display metabolic …
Atypical cobalamin deficiency Subtle biochemical evidence of deficiency is commonly demonstrable in patients without megaloblastic anemia and is often associated …
R Carmel, RM Sinow… - The Journal of laboratory …, 1987 - translationalres.com
We performed studies in 25 patients with low serum cobalamin levels who had few if any
clinical or hematologic findings of cobalamin deficiency. All but three had morphologically …
clinical or hematologic findings of cobalamin deficiency. All but three had morphologically …
Methylmalonic aciduria with homocystinuria
A Ribes, MA Vilaseca, P Briones, A Maya… - … 1 and 2 of Journal of …, 1984 - Springer
Methylmalonic aciduria with homocystinuria (McKusick 27740) is a disorder of the cytosolic
metabolism of cobalamin (Levy et al., 1970) which involves an impaired synthesis of the two …
metabolism of cobalamin (Levy et al., 1970) which involves an impaired synthesis of the two …
Mental Retardation, Megaloblastic Anaemia, Methylmalonic Aciduria and Abnormal Homocysteine Metabolism Due to an Error in Vitamin B12 Metabolism
MJ Dillon, JM England, D Gompertz… - Clinical Science and …, 1974 - portlandpress.com
1. The case is described of a child with retarded physical and mental development, recurrent
megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism …
megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism …
Cobalamin and folate deficiency: acquired and hereditary disorders in children.
DS Rosenblatt, VM Whitehead - Seminars in hematology, 1999 - europepmc.org
This review highlights the features of cobalamin and folate deficiency and insufficiency that
are particular to children. Maternal deficiency of cobalamin and insufficiency or deficiency of …
are particular to children. Maternal deficiency of cobalamin and insufficiency or deficiency of …