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Article

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Turkish journal of haematology : official journal of Turkish Society of Haematology - 1 Dec 2015

Ünal Şule, Rupar Tony, Yetgin Sevgi, Yaralı Neşe, Dursun Ali, Gürsel Türkiz, Çetin Mualla

Abstract excerpt

OBJECTIVE: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. MATERIALS AND METHODS: Herein, we describe the findings at presentation...

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Identifiers

PMID: 25914105
DOI: 10.4274/tjh.2014.0154
PMCID: PMC4805327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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