Saadet Mercimek-Mahmutoglu

36PUBLICATIONS
128CO-AUTHORS
Medical devicesFoetal development and medicineInfant and child healthAnthropological geneticsCancer therapy (excl. chemotherapy and radiation therapy)
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Publications (36)

|Mar 06, 2026
A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.

Anastasia Ambrose, Morganne McCabe, Shalini Bahl

|Jan 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph

|Sep 03, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Nataliya Yuskiv, Ammar Saad, Beth K Potter

|Jun 23, 2025
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.

Anastasia Ambrose, Oana Caluseriu, Saadet Mercimek-Andrews

|Apr 28, 2025
Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

Randa Sultan, Marta Villa-Lopez, Clara Hung

|Jan 15, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.

Anastasia Ambrose, Vanda McNiven, Diane Wilson

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Frequent Collaborators

2 joint publications

Thomas Opladen

2 joint publications

Beth K Potter

2 joint publications

Sven F Garbade

2 joint publications

Andreas Schulze