Meryem K. Karaca

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 50 publications

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

Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening.

Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 17, 2026

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Journal: Journal of clinical lipidology

Published: February 07, 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

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Journal: Journal of inherited metabolic disease

Published: December 22, 2025

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Journal: Human genomics

Published: December 11, 2025

Correction: Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Correction: Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Journal: Pediatric research

Published: November 01, 2025

Response to the letter by Schmitt et al.

Response to the letter by Schmitt et al.

Journal: European journal of endocrinology

Published: August 07, 2025

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.

Journal: International journal of molecular sciences

Published: July 28, 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

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Journal: American journal of medical genetics. Part A

Published: June 18, 2025

The Validity and Reliability of the Turkish Version of the Parental Needs Scale for Rare Diseases (PNS-RD).

The Validity and Reliability of the Turkish Version of the Parental Needs Scale for Rare Diseases (PNS-RD).

Journal: Journal for specialists in pediatric nursing : JSPN

Published: April 23, 2025

Showing 1-12 of 50

Last Updated: 09/26/2026