Ozlem Unal

Ankara, Turkey

Last Updated: 09/26/2026

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Found 10 publications

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.

Journal: Human molecular genetics

Published: September 13, 2021

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Journal: The Turkish journal of pediatrics

Published: January 18, 2020

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Journal: The Turkish journal of pediatrics

Published: January 18, 2020

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.

Journal: Neuropediatrics

Published: November 16, 2018

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 18, 2018

Deoxyguanosine kinase deficiency: a report of four patients.

Deoxyguanosine kinase deficiency: a report of four patients.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 04, 2016

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 01, 2015

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Journal: European journal of pediatrics

Published: December 13, 2014

Is coracoacromial arch angle a predisposing factor for rotator cuff tears?

Is coracoacromial arch angle a predisposing factor for rotator cuff tears?

Journal: Diagnostic and interventional radiology (Ankara, Turkey)

Published: September 11, 2014

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Journal: Gene

Published: January 24, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026