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Article

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.

The Turkish journal of pediatrics - 1 Jan 2017

Işıkay Sedat, Yaman Ayhan, Ceylaner Serdar

Abstract excerpt

Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month-old female patient...

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Identifiers

PMID: 29376578
DOI: 10.24953/turkjped.2017.03.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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