Havva Yazici
Ege, Turkey
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Distinct Brain Magnetic Resonance Imaging (MRI) Findings Across Mucopolysaccharidosis Types: Novel Insights.
Journal: Journal of child neurology
Published: July 31, 2025
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Journal: European journal of pediatrics
Published: October 01, 2024
Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: November 12, 2023
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: May 11, 2023
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 25, 2022
Long-term follow-up of alkaptonuria patients: single center experience.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 02, 2022
Two siblings with galactose mutarotase deficiency: Clinical differences.
Journal: JIMD reports
Published: September 02, 2021
Severe perinatal hypophosphatasia case with a novel mutation.
Journal: Archivos argentinos de pediatria
Published: December 09, 2020
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Journal: JIMD reports
Published: December 07, 2020
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Published: May 06, 2020
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 27, 2018
Showing 1-11 of 11
Last Updated: 09/26/2026