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An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

The Turkish journal of pediatrics - 1 Jan 2019

Kasapkara Çiğdem Seher, Yılmaz-Keskin Ebru, Özbay-Hoşnut Ferda, Akçaboy Meltem, Polat Emine, Olgaç Asburçe, Zorlu Pelin

Abstract excerpt

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of...

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Identifiers

PMID: 31951343
DOI: 10.24953/turkjped.2019.02.021

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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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