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Journal ArticleDOI

Diagnosis of megaloblastic anaemias.

S.N. Wickramasinghe
- 01 Nov 2006 - 
- Vol. 20, Iss: 6, pp 299-318
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TLDR
The wide use of serum B(12) and metabolite assays has resulted in the increasingly early diagnosis of B( Twelve) deficiency, often in patients without B( 12)-related symptoms (subclinical deficiency).
About
This article is published in Blood Reviews.The article was published on 2006-11-01. It has received 133 citations till now. The article focuses on the topics: Megaloblastic anemia & Methylmalonic acid.

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Citations
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Journal ArticleDOI

Biomarkers of Nutrition for Development (BOND)-Iron Review.

TL;DR: A full appreciation of folate's history as a public health issue, its biology, and an overview of available biomarkers and their interpretation across a range of clinical and population-based uses are provided.
Journal ArticleDOI

An update on cobalamin deficiency in adults

TL;DR: Mutations in genes encoding endocytic receptors involved in the ileal absorption and cellular uptake of cobalamin have been recently uncovered and explain, at least in part, the hereditary component of megaloblastic anemia.
Journal ArticleDOI

Advances in the understanding of cobalamin assimilation and metabolism

TL;DR: The synthesis of methylcobalamins and 5′‐deoxyadenosylcobalamin, their utilization in conjunction with methionine synthase and methylmalonylCoA mutase, respectively, and the metabolic consequences of defects in these pathways could provide insights into the clinical presentation of cobalamin deficiency.
Journal ArticleDOI

Nutrition in the age-related disablement process.

TL;DR: A critical review of different aspects related to the role of nutrition in the transition from independence to disability, and proposed future lines for research, including the determination of levels of inadequacy and target doses of supplements, the study of interactions (between nutrients within a diet and with other lifestyle aspects), and the association with functional outcomes.
References
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Book ChapterDOI

de la Chapelle, A.

TL;DR: De la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb shortening is associated with a characteristic triangular configuration of the radius and ulna.
Journal ArticleDOI

Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis

TL;DR: It is concluded that neuropsychiatric disorders due to cobalamin deficiency occur commonly in the absence of anemia or an elevated mean cell volume and that measurements of serum methylmalonic acid and total homocysteine both before and after treatment are useful in the diagnosis of these patients.
Journal ArticleDOI

Neurologic aspects of cobalamin deficiency.

TL;DR: A wide variety of neurologic symptoms and signs were encountered, however, including ataxia, loss of cutaneous sensation, muscle weakness, diminished or hyperactive reflexes, spasticity, urinary or fecal incontinence, orthostatic hypotension, Loss of vision, dementia, psychoses, and disturbances of mood.
Journal ArticleDOI

Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies

TL;DR: It is concluded that normal levels of both methylmalonic acid and total homocysteine rule out clinically significant cobalamin deficiency with virtual certainty.
Book

Pernicious anemia

Lawrence Kass
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