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 ?
For example, research has suggested that the most important cognitive factor in students' perception of CBLEs was their perception of control and ability to choose which information is accessed (Wishart, 1990).
A CBLE has to include different types of information resources (e.
As these overarching purposes require a number of more specific didactical strategies or tactics, a number of smaller, more specific help facilities are usually devised that are integrated in a package that we call a CBLE.
An example of a cognitive tool is a pocket calculator embedded in a CBLE for algebra or geometry.
All these examples of typical ways of using tools in CBLE reflect metacognitive or self-regulation deficits more than cognitive deficits.
This overall negative picture might suggest that providing metacognitive and self-regulation support in CBLE is per se not very effective.
Noticeably, conditional knowledge about external sources does not necessarily develop just by being exposed to the resources-especially not when a CBLE is complex and the to-be-learned content is demanding.
The quality of metacognitive demands will depend on a fit among at least three factors: (1) the learning task's design, (2) the design of the CBLE, (3) the learners' prerequisites (i.
In the context of computer-based learning environments (CBLEs), a related, but more specific set of questions arises, namely how effectively can learners utilize the various features that CBLEs s offer nowadays to acquire knowledge and skills in different domains (e.
My central argument is that with their growing complexity, CBLEs pose cognitive as well as metacognitive and self-regulation demands on learners.
I then illustrate how external representations and support measures (often referred to as "tools") as the constituent elements of CBLEs pose different demands on learners and how learners' levels of expertise are related to this.