Works matching DE "METHYLMALONIC acid"
Results: 243
A RARE INHERITED METABOLIC DISEASE: COMBINED MALONIC AND METHYLMALONIC ACIDURIA.
- Published in:
- 2020
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- Publication type:
- Case Study
Breastfeeding and biomarkers of folate and cobalamin status in Norwegian infants: a cross-sectional study.
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- Journal of Nutritional Science, 2024, v. 13, p. 1, doi. 10.1017/jns.2024.54
- Publication type:
- Article
Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 1, p. 104, doi. 10.1002/mdc3.12237
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- Publication type:
- Article
Diagnostic Importance of Methylmalonic Acid and Vitamin B<sub>12</sub> in Cattle with Simple Indigestion.
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- Van Veterinary Journal, 2021, v. 32, n. 1, p. 43, doi. 10.36483/vanvetj.873559
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- Publication type:
- Article
Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1012558
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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.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.951007
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- Publication type:
- Article
Microbial–Metabolomic Exploration of Tea Polyphenols in the Regulation of Serum Indicators, Liver Metabolism, Rumen Microorganisms, and Metabolism in Hu Sheep.
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- Animals (2076-2615), 2024, v. 14, n. 18, p. 2661, doi. 10.3390/ani14182661
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- 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
Relationship between Vitamin B12 and Cobalt Metabolism in Domestic Ruminant: An Update.
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- Animals (2076-2615), 2020, v. 10, n. 10, p. 1855, doi. 10.3390/ani10101855
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- Publication type:
- Article
N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.
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- Neonatology (16617800), 2016, v. 109, n. 4, p. 303, doi. 10.1159/000443630
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- Publication type:
- Article
Maternal vitamin B<sub>12</sub> deficiency and perinatal outcomes in southern India.
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- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0248145
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- Publication type:
- Article
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
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- 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
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
Correction.
- Published in:
- 2024
- Publication type:
- Correction Notice
Functional vitamin B<sub>12</sub> deficiency is a consistent feature in hospital admissions for neurological disorders due to the use of nitrous oxide.
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- Clinical Toxicology (15563650), 2023, v. 61, n. 9, p. 674, doi. 10.1080/15563650.2023.2274282
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- Publication type:
- Article
2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria.
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- Journal of Neurochemistry, 2016, v. 137, n. 1, p. 62, doi. 10.1111/jnc.13544
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- Publication type:
- Article
Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier.
- Published in:
- 2015
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- Publication type:
- Case Study
Functional vitamin B12 deficiency in advanced malignancy: implications for the management of neuropathy and neuropathic pain.
- Published in:
- 2016
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- Publication type:
- journal article
Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature.
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- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8111013
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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
Cobalamin and Methylmalonic Acid as Biomarkers of Vitamin B12 Deficiency in Elderly.
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- International Journal of Pharmaceutical Research (09752366), 2020, v. 12, n. 4, p. 2724, doi. 10.31838/ijpr/2020.12.04.376
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- Publication type:
- Article
Diagnostic Performances of Urinary Methylmalonic Acid/Creatinine Ratio in Vitamin B12 Deficiency.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2335, doi. 10.3390/jcm9082335
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- Publication type:
- Article
Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2326, doi. 10.3390/jcm9082326
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- Publication type:
- Article
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
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- Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 551, doi. 10.3390/jcm8040551
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- Publication type:
- Article
P-191 - Case report of methylmalonic acidemia and homocysteinemia with bipolar disorder and literature review
- Published in:
- 2012
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- Publication type:
- Abstract
Peripheral neuropathy in Parkinson's disease.
- Published in:
- 2020
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- Publication type:
- journal article
Serum methylmalonic acid correlates with neuropathic pain in idiopathic Parkinson's disease.
- Published in:
- 2017
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- Publication type:
- journal article
Lipophilic fullerenes.
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- Russian Journal of Organic Chemistry, 2015, v. 51, n. 8, p. 1057, doi. 10.1134/S1070428015080011
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- Publication type:
- Article
Urinary Methylmalonic Acid as an Indicator of Early Vitamin B12 Deficiency and Its Role in Polyneuropathy in Type 2 Diabetes.
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- Journal of Diabetes Research, 2014, p. 1, doi. 10.1155/2014/921616
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- Publication type:
- Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
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- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
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- Publication type:
- Article
Association between serum methylmalonic acid and chronic kidney disease in adults: a cross-sectional study from NHANES 2013-2014.
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- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1434299
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- Publication type:
- Article
Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia.
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- Ultrastructural Pathology, 2014, v. 38, n. 5, p. 309, doi. 10.3109/01913123.2014.921657
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- Publication type:
- Article
A Case of Subacute Combined Degeneration of Spinal Cord Diagnosed by Vitamin B<sub>12</sub> Administration Lowering Methylmalonic Acid.
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- Case Reports in Neurology, 2020, v. 12, n. 1, p. 27, doi. 10.1159/000505321
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- Publication type:
- Article
A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry.
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- Journal of Clinical & Diagnostic Research, 2021, v. 15, n. 2, p. 1, doi. 10.7860/JCDR/2021/46980.14485
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- Publication type:
- Article
Anesthetic management of a child with methylmalonic acidemia for lens aspiration - a case report.
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- Anaesthesia, Pain & Intensive Care, 2020, v. 24, n. 2, p. 237, doi. 10.35975/apic.v24i2.1262
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- Publication type:
- Article
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
- Published in:
- 2020
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- Publication type:
- Letter
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
- Published in:
- 2019
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- Publication type:
- journal article
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
- Published in:
- 2019
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- Publication type:
- journal article
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.
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- 2018
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- Publication type:
- journal article
IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA.
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- Acta Endocrinologica (1841-0987), 2020, v. 16, n. 2, p. 242, doi. 10.4183/aeb.2020.242
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- Publication type:
- Article
A Coumarin-Based Fluorescent Probe as a Central Nervous System Disease Biomarker.
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- Sensors (14248220), 2014, v. 14, n. 11, p. 21140, doi. 10.3390/s141121140
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- Publication type:
- Article
Assessment of cellular cobalamin metabolism in Gaucher disease.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0947-z
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- Publication type:
- Article
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0731-5
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- Publication type:
- Article
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the <italic>MMAA</italic> gene in two Chinese siblings.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0635-4
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- Publication type:
- Article
Hypertension may lead to cognitive dysfunction in older adults via methylmalonic acid: evidence from NHANES 2011–2014 population.
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- BMC Geriatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12877-024-05599-6
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- Publication type:
- Article
Vitamin B<sub>12</sub> and folate tests: the ongoing need to determine appropriate use and public funding.
- Published in:
- 2013
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- Publication type:
- Opinion
Comparison of two methods for measuring methylmalonic acid as a marker for vitamin B12 deficiency.
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- Diagnosis (2194-802X), 2015, v. 2, n. 1, p. 67, doi. 10.1515/dx-2014-0030
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- Publication type:
- Article
Hutchinson-Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report.
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- Pediatric Dermatology, 2015, v. 32, n. 2, p. 271, doi. 10.1111/pde.12406
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- Publication type:
- Article
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery.
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- Gene Therapy, 2012, v. 19, n. 4, p. 385, doi. 10.1038/gt.2011.108
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- Publication type:
- Article
Ni Nanoparticles Embedded Ti 3 C 2 T x -MXene Nanoarchitectures for Electrochemical Sensing of Methylmalonic Acid.
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- Biosensors (2079-6374), 2022, v. 12, n. 4, p. 231, doi. 10.3390/bios12040231
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- Publication type:
- Article