Nafiye E. Cakar

Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital
Istanbul, Turkey

Last Updated: 09/26/2026

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Found 20 publications

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 03, 2026

The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders.

The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 19, 2026

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Journal: Italian journal of pediatrics

Published: January 12, 2026

A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.

A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 17, 2025

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.

Journal: Frontiers in neurology

Published: July 01, 2025

Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency.

Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 30, 2024

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.

Journal: Clinical neurology and neurosurgery

Published: July 01, 2023

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.

Journal: Clinical neurology and neurosurgery

Published: September 27, 2022

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Journal: Ideggyogyaszati szemle

Published: May 03, 2021

Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.

Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.

Journal: Ideggyogyaszati szemle

Published: May 03, 2021

Cases of inborn errors of metabolism diagnosed in children with autism.

Cases of inborn errors of metabolism diagnosed in children with autism.

Journal: Ideggyogyaszati szemle

Published: January 26, 2021

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Last Updated: 09/26/2026