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Mitochondria-derived methylmalonic acid aggravates ischemia–reperfusion injury by activating reactive oxygen species-dependent ferroptosis.
- Published in:
- Cell Communication & Signaling, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12964-024-01479-z
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- Publication type:
- Article
Serum methylmalonic acid concentrations at breast cancer diagnosis significantly correlate with clinical frailty.
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- GeroScience, 2024, v. 46, n. 2, p. 1489, doi. 10.1007/s11357-023-00908-0
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- Publication type:
- Article
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
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- Drugs in R&D, 2024, v. 24, n. 1, p. 69, doi. 10.1007/s40268-023-00449-z
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- Publication type:
- Article
Increased serum methylmalonic acid levels were associated with the presence of cognitive dysfunction in older chronic kidney disease patients with albuminuria.
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- BMC Geriatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12877-024-04759-y
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- Publication type:
- Article
Understanding Neuropathy Features in the Context of Nitrous Oxide Abuse: A Combined Electrophysiological and Metabolic Approach.
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- Biomedicines, 2024, v. 12, n. 2, p. 429, doi. 10.3390/biomedicines12020429
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- Publication type:
- Article
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03021-3
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- Publication type:
- Article
Mitochondria-derived methylmalonic acid aggravates ischemia–reperfusion injury by activating reactive oxygen species-dependent ferroptosis.
- Published in:
- Cell Communication & Signaling, 2024, v. 22, p. 1, doi. 10.1186/s12964-024-01479-z
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- Publication type:
- Article
A case of functional vitamin B12 deficiency after recreational nitrous oxide use.
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- Biochemia Medica, 2024, v. 34, n. 1, p. 1, doi. 10.11613/BM.2024.010801
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- Publication type:
- Article
Reverse cascade testing from newborn screening: the opportunity to improve family healthcare outcomes.
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- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 1, p. e16, doi. 10.1515/cclm-2023-0594
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- Publication type:
- Article
Nitrous‐oxide‐induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies.
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- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16076
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- Article
Methylmalonic acid, vitamin B12, and mortality risk in patients with preexisting coronary heart disease: a prospective cohort study.
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- Nutrition Journal, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12937-023-00900-6
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- Publication type:
- Article
Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1255128
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- Publication type:
- Article
Late-onset cblC defect: clinical, biochemical and molecular analysis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4
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- Publication type:
- Article
A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening.
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- Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2023, v. 76, n. 3, p. 287, doi. 10.4274/atfm.galenos.2023.50023
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- Publication type:
- Article
A Case Report of Nitrous Oxide-induced Myelopathy: An Unusual Cause of Weakness in an Emergency Department.
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- 2023
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- Publication type:
- Case Study
Methylmalonic acid promotes colorectal cancer progression via activation of Wnt/β-catenin pathway mediated epithelial–mesenchymal transition.
- Published in:
- Cancer Cell International, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12935-023-02973-z
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- Publication type:
- Article
Serum cobalamin and methylmalonic acid concentrations in juvenile dogs with parvoviral enteritis or other acute enteropathies.
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 4, p. 1368, doi. 10.1111/jvim.16736
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- Publication type:
- Article
Nitrous oxide-induced funicular myelosis and polyneuropathy: a case report with follow-up MR imaging.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2621, doi. 10.1007/s10072-023-06660-9
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- Publication type:
- Article
Diagnose und Therapie des Vitamin-B12-Mangels: Risikogruppen besonders gefährdet.
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- Trillium-Diagnostik, 2023, v. 21, n. 3, p. 168, doi. 10.47184/td.2023.03.04
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- Publication type:
- Article
Vitamin B12 Status in Recreational Users of Nitrous Oxide: A Systematic Review Focusing on the Prevalence of Laboratory Abnormalities.
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- Antioxidants, 2023, v. 12, n. 6, p. 1191, doi. 10.3390/antiox12061191
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- Publication type:
- Article
Magnetic MXene–based molecularly imprinted electrochemical sensor for methylmalonic acid.
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- Microchimica Acta, 2023, v. 190, n. 6, p. 1, doi. 10.1007/s00604-023-05791-2
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- Publication type:
- Article
Vitamin B12 in Cats: Nutrition, Metabolism, and Disease.
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- Animals (2076-2615), 2023, v. 13, n. 9, p. 1474, doi. 10.3390/ani13091474
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- Publication type:
- Article
Methylmalonic Acid Impairs Cell Respiration and Glutamate Uptake in C6 Rat Glioma Cells: Implications for Methylmalonic Acidemia.
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- Cellular & Molecular Neurobiology, 2023, v. 43, n. 3, p. 1163, doi. 10.1007/s10571-022-01236-1
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- Publication type:
- Article
Plasma methylmalonic acid predicts risk of acute myocardial infarction and mortality in patients with coronary heart disease: A prospective 2‐cohort study.
- Published in:
- Journal of Internal Medicine, 2023, v. 293, n. 4, p. 508, doi. 10.1111/joim.13610
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- Publication type:
- Article
Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study.
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- Journal of Neurology, 2023, v. 270, n. 4, p. 2237, doi. 10.1007/s00415-023-11570-z
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- Publication type:
- Article
In vivo assignment of methylmalonic acid in breast tissue using 2D MRS and relationship with breast density, menopausal status and cancer risk.
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- NMR in Biomedicine, 2023, v. 36, n. 3, p. 1, doi. 10.1002/nbm.4851
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- Publication type:
- Article
Methylmalonic acidemia: Neurodevelopment and neuroimaging.
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- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1110942
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- Publication type:
- Article
Linagliptin treatment is associated with altered cobalamin (VitB12) homeostasis in mice and humans.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27648-7
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- Publication type:
- Article
6-18 Yaş Arası Çocuklarda Nütrisyonel Vitamin B<sub>12</sub> Eksikliğinde Oral Kobalamin Tedavisinin Etkinliğinin Retrospektif Değerlendirilmesi.
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- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2023, v. 32, n. 1, p. 8, doi. 10.5336/pediatr.2022-91251
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- Article
Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1090958
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- Publication type:
- Article
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.
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- Acta Paediatrica, 2022, v. 111, n. 12, p. 2315, doi. 10.1111/apa.16530
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- Publication type:
- Article
Methylmalonic acid induces inflammatory response and redox homeostasis disruption in C6 astroglial cells: potential glioprotective roles of melatonin and resveratrol.
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- Amino Acids, 2022, v. 54, n. 11, p. 1505, doi. 10.1007/s00726-022-03191-z
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- Publication type:
- Article
Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1012558
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- Publication type:
- Article
Tumor-produced and aging-associated oncometabolite methylmalonic acid promotes cancer-associated fibroblast activation to drive metastatic progression.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33862-0
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- Publication type:
- Article
A Rapid, Simple, Trace, Cost-Effective, and High-Throughput Stable Isotope-Dilution Liquid Chromatography–Tandem Mass Spectrometry Method for Serum Methylmalonic Acid Quantification and Its Clinical Applications.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2273, doi. 10.3390/diagnostics12102273
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- Article
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
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- 2022
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- Publication type:
- Case Study
Unusual Derivatization of Methylmalonic Acid with Pentafluorobenzyl Bromide to a Tripentafluorobenzyl Derivative and Its Stable-Isotope Dilution GC-MS Measurement in Human Urine.
- Published in:
- Molecules, 2022, v. 27, n. 16, p. 5202, doi. 10.3390/molecules27165202
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- Publication type:
- Article
Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.951007
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- Publication type:
- Article
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 14, p. 5136
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- Publication type:
- Article
A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge.
- Published in:
- Biochemia Medica, 2022, v. 32, n. 2, p. 1, doi. 10.11613/BM.2022.020802
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- Publication type:
- Article
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
- Published in:
- Metabolic Brain Disease, 2022, v. 37, n. 5, p. 1317, doi. 10.1007/s11011-022-00954-1
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- Publication type:
- Article
Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 6, p. 527, doi. 10.3390/metabo12060527
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- Publication type:
- Article
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
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- Science Translational Medicine, 2022, v. 14, n. 646, p. 1, doi. 10.1126/scitranslmed.abn4772
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- Publication type:
- Article
Ni Nanoparticles Embedded Ti 3 C 2 T x -MXene Nanoarchitectures for Electrochemical Sensing of Methylmalonic Acid.
- Published in:
- Biosensors (2079-6374), 2022, v. 12, n. 4, p. 231, doi. 10.3390/bios12040231
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- Article
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
- Published in:
- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0265766
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- Article
A rise in cases of nitrous oxide abuse: neurological complications and biological findings.
- Published in:
- 2022
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- Publication type:
- Case Study
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B 12)-Dependent Level of Methylmalonic Acid.
- Published in:
- Viruses (1999-4915), 2021, v. 13, n. 12, p. 2504, doi. 10.3390/v13122504
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- Publication type:
- Article
MMAB promotes negative feedback control of cholesterol homeostasis.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26787-7
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- Publication type:
- Article
Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature.
- Published in:
- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8111013
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- Publication type:
- Article