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Ali Tunç Tuncel

Observed names: A. Tunç Tuncel, Ali Tunҫ Tuncel, Tuncel, Ali Tunҫ
ORCID: 0000-0002-7210-2503
Observed ORCID: 0000-0002-7210-2503
OpenAlex ID: A5088024205
Organic acidurias in adults: late complications and management
2018 · Ali Tunç Tuncel, Nikolas Boy, et al. · Journal of Inherited Metabolic Disease · 51
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
2020 · Friederike Hörster, Ali Tunç Tuncel, et al. · Journal of Inherited Metabolic Disease · 38
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Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis
2015 · Ali Tunç Tuncel, Thorsten Ruppert, et al. · PLoS ONE · 25
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Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis
2024 · Svenja Scharre, Katharina Mengler, et al. · Genetics in Medicine · 15
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Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
2024 · Elena Schnabel‐Besson, Sven F. Garbade, et al. · Journal of Inherited Metabolic Disease · 15
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“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics
2023 · Alexandre Raynor, Arnaud Bruneel, et al. · PROTEOMICS - CLINICAL APPLICATIONS · 7
Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion
2025 · Ulrike Mütze, Svenja Scharré, et al. · European Journal of Paediatric Neurology · 6
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis
2025 · Robert Šáhó, Renata Formánková, et al. · Journal of Inherited Metabolic Disease · 4
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis
2026 · Angelika Bolte, Clara Velmans, et al. · Human Genomics · 1
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Alpha-Mannosidosis: Quantitative Oligosaccharide Biomarker Analysis in Dried Blood Spots for Diagnosis, Newborn Screening, and Treatment Monitoring
2026 · Dominik Badekow, Michelle Jeschik, et al. · medRxiv
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis
2026 · Bolte, Angelika, Velmans, Clara, et al. · Figshare
Additional file 1 of An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis
2026 · Bolte, Angelika, Velmans, Clara, et al. · Figshare
Outcome of hematopoietic stem cell transplantation in 19 patients with alpha-mannosidosis
2025 · Robert Saho, Renata Formankova, et al. · Molecular Genetics and Metabolism
Vernetzte Versorgung – heute und in 10 Jahren
2023 · Tim Vogel, Anne Sophie Albertowski, et al. · Monatsschrift Kinderheilkunde
Works count: 15
Citation count: 162
H-index: 6
I10-index: 5
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