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March 1, 1985PEDIATRICS

Normotriglyceridemic Abetalipoproteinemia in Infancy: An Isolated Apolipoprotein B-100 Deficiency

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Population

1-year-old Japanese infant with malnutrition, severe decrease in plasma lipid level, and acanthocytosis

Design

Case_report

Follow-up

From 6 months to 1 year of age

Authors

YTYoshiki TakashimaTokyo Ohka Kogyo (Japan)TKTatsuhiko KodamaUniversity of FukuiHLHisaya lida

Discussion

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Implication

May inform differential of normotriglyceridemic abetalipoproteinemia; leaves open validation in larger cohorts.

Structured PICO

P
Population
1-year-old Japanese infant with malnutrition, severe decrease in plasma lipid level, and acanthocytosis
O
Outcome
Plasma lipoprotein and apolipoprotein compositionsurrogate

This case report identifies an isolated apolipoprotein B-100 deficiency as the cause of normotriglyceridemic abetalipoproteinemia in an infant.

Cite This Study

Takashima et al. (1985) studied this question.

synapsesocial.com/papers/6a9532923d7e4fca39b2d7c1https://doi.org/10.1542/peds.75.3.541
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.1985 · 58 citations
  2. 2Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.1981 · 194 citations
  3. 3Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.1991 · 54 citations
  4. 4Variable expression of familial heterozygous hypobetalipoproteinemia: transient malabsorption during infancy.1994 · 32 citations
  5. 5Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia2005 · 14 citations