methylcobalamin deficiency type E

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methylcobalamin deficiency type E

An autosomal recessive condition (OMIM:236270) characterised by a defect in reductive activation of methionine synthase, resulting in megaloblastic anaemia, developmental delay, hypomethioninaemia and hyperhomocysteinaemia, as well as an increased risk of cardiovascular disease and neural tube defects.

Molecular pathology
Defects in MTRR, which encodes an enzyme involved in the reductive regeneration of cobalamin cofactor, cause methylcobalamin deficiency type E.
References in periodicals archive ?
Finally, in order to generalize the good performance of IM with educational data, it would be interesting to test the algorithm in different CBLEs, such as alternative LMSs or the emerging MOOCs.
Learning that implies CBLEs requires more effort by the student when deciding what, how, and how much to learn, and how much time to invest, when to change or drop the strategy being practiced, when to increase or save effort, etc.
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.
The primary aim of this symposium was to continue the discussion started in 2009 on some of the previous considerations and to enhance the discussions with some new ones: What are the theoretical foundations and how are they articulated in CBLEs? Is it possible to develop a unified framework for all metacognitive educational systems?
Student-controlled CBLEs offer students the provision of choice in accessing information, whereas program-controlled CBLEs present information in a predetermined manner.
Elle consiste cacher les cbles isols et scuriss sous les ornements des immeubles.
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Tenders are invited for Supply of xlpe power cbles.
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