Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The possible role of cobalamins in the utilization of serum methyltetrahydrofolate has been investigated by means of radiolabeled methyltetrahydrofolate in subjects suffering from pernicious anemia. After intravenous administration, methyltetrahydrofolate-(3)H (SA 11,500 Ci/mole; dose 0.05 mug/kg) was cleared from the serum to tissues of B(12)-deficient subjects half as fast as after the same subjects had received vitamin B(12) therapy. B(12) deficiency was also associated with an increased rate of renal excretion of methyltetrahydrofolate or its derivatives, and a decreased rate of renal metabolism of methyltetrahydrofolate to other urinary folate derivatives.Intravenously administered methyl-(14)C-tetrahydrofolate-(3)H at a higher dose (5 mug/kg) caused a severalfold elevation of the total serum folate concentration and, in B(12)-deficient subjects, it did not disappear from the serum significantly more slowly although its urinary excretion was significantly increased. These results indicate that there is some cobalamin requirement for the utilization of serum methyltetrahydrofolate and verify one prediction of the "methyltetrahydrofolate trap" explanation for the megaloblastosis of B(12) deficiency.
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PMID:Impaired utilization of serum folate in pernicious anemia. A study with radiolabeled 5-methyltetrahydrofolate. 502 40

Sebaceous naevus (sebaceous hamartoma) is a congenital lesion mainly localized to the scalp, whose clinical and histologic diagnosis is generally easy. In the vast majority of cases, it is diagnosed at birth, but it can sometimes go unnoticed and give the impression to occur later. This lesion may be complicated by benign tumors or more rare malignancies. We report the case of a 45-year old patient, who had been followed-up for Biermer's anemia (treated with monthly HYDROXOCOBALAMINE injection) and ophiasic alopecia for 15 years, presenting with a 10-year history of bilateral and symmetric pigmented plaques gradually increasing in size. Clinical examination showed temporal and subauricular plaques, with brownish verrucous appearance and smooth surface (A, B). Histological examination objectified acanthosis, papillomatosis and voluminous sebaceous glands located abnormally high within the dermis, suggesting sebaceous hamartoma. CO2 laser treatment was proposed to the patient.
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PMID:[Sebaceous hamartoma on the face: about a case]. 3037 78