Yilmaz Yildiz
Ankara, Turkey
Last Updated: 09/26/2026
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Found 19 publications
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease.
Journal: American journal of medical genetics. Part A
Published: August 02, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Journal: Orphanet journal of rare diseases
Published: October 21, 2024
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).
Journal: American journal of medical genetics. Part A
Published: July 02, 2024
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Journal: Life (Basel, Switzerland)
Published: September 22, 2022
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Journal: NEJM evidence
Published: July 01, 2022
Comment on the "NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure".
Journal: Journal of pediatric gastroenterology and nutrition
Published: February 12, 2022
A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.
Journal: Acta neurologica Belgica
Published: January 20, 2022
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
Journal: Cells
Published: November 09, 2021
Last Updated: 09/26/2026