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Article

Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.

Journal of clinical lipidology - 1 Jan 2000

Takahashi Manabu, Ozaki Nobuaki, Nagashima Shuichi, Wakabayashi Tetsuji, Iwamoto Sadahiko, Ishibashi Shun

Abstract excerpt

"Normotriglyceridemic abetalipoproteinemia (ABL)" was originally described as a clinical entity distinct from either ABL or hypobetalipoproteinemia. Subsequent studies identified mutations in APOB gene which encoded truncated apoB longer than apoB48. Therefore, "Normotriglyceridemic ABL" can be a subtype of homozygous familial hypobetalipoproteinemia. Here, we report an atypical female case of ABL who was...

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Identifiers

PMID: 34052173
DOI: 10.1016/j.jacl.2021.04.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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