Associated Papers
Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.
Morishita Y et al.
Pediatric Blood & Cancer, 2025
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.
Matsumoto M et al.
European Journal of Medical Genetics, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
38740980 (PubMed )
Supplement: 41375_2024_2263_MOESM2_ESM.xlsx › Table_S4
Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation.
Kagajo M et al.
Leukemia Research Reports, 2024
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.
Mu A et al.
Dna Repair, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome.
Kinoshita S et al.
Heliyon, 2021
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Mu A et al.
Blood, 2021
Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.
Dingler FA et al.
Molecular Cell, 2020
33147438 (PubMed )
Supplement: mmc1.pdf
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y et al.
Science Advances, 2020
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