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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening systemic illness of abrupt onset and unknown cause. Proteolysis of the blood-clotting protein von Willebrand factor (VWF) observed inExpand
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Prevalence of cobalamin deficiency in the Framingham elderly population.
To determine whether the increased prevalence of low serum cobalamin concentrations in elderly people represents true deficiency, serum concentrations of cobalamin and folate and of metabolites thatExpand
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Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis.
Among 141 consecutive patients with neuro-psychiatric abnormalities due to cobalamin deficiency, we found that 40 (28 percent) had no anemia or macrocytosis. The hematocrit was normal in 34, the meanExpand
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Total homocysteine in plasma or serum: methods and clinical applications.
Total homocysteine is defined as the sum of all homocysteine species in plasma/serum, including free and protein-bound forms. In the present review, we compare and evaluate several techniques for theExpand
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Clinical practice. Vitamin B12 deficiency.
  • S. Stabler
  • Medicine
  • The New England journal of medicine
  • 1 August 1996
Vitamin B12 deficiency causes reversible megaloblastic anemia, demyelinating disease, or both. Current assays have insufficient sensitivity and specificity; methylmalonic acid levels are useful toExpand
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Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency
Mammalian cells contain two Cbl‐dependent enzymes, l‐methylmalonyl‐CoA mutase and methionine synthase. The former requires adenosyl‐Cbl and catalyzes the conversion of l‐methylmalonyl‐CoA toExpand
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Vitamin B12 Deficiency and Depression in Physically Disabled Older Women: Epidemiologic Evidence From the Women’s Health and Aging Study
OBJECTIVE: It has been hypothesized that adequate concentrations of vitamin B12 and folate are essential to maintain the integrity of the neurological systems involved in mood regulation, butExpand
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Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies.
PURPOSE Patients with cobalamin (vitamin B12) deficiency usually lack many of the classic features of severe megaloblastic anemia; because of the low diagnostic specificity of decreased serumExpand
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Homocysteine metabolism and risk of myocardial infarction: relation with vitamins B6, B12, and folate.
Elevated plasma homocyst(e)ine levels are an independent risk factor for vascular disease. In a case-control study, the authors studied the associations of fasting plasma homocyst(e)ine and vitamins,Expand
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Vitamin B12 deficiency.
  • S. Stabler
  • Medicine
  • The New England journal of medicine
  • 2013
Copyright © 2013 Massachusetts Medical Society. A 57-year-old woman reports increasing symptoms of painful paresthesias in both legs for the past 18 months. Physical examination reveals impairedExpand
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