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Oral Levodopa, Vitamin B6, and Polyneuropathy: A Case Series.
- Published in:
- Canadian Journal of Neurological Sciences, 2024, v. 51, n. 3, p. 472, doi. 10.1017/cjn.2023.53
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- Article
Vitamins and Infusion of Levodopa-Carbidopa Intestinal Gel.
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- Canadian Journal of Neurological Sciences, 2022, v. 49, n. 1, p. 19, doi. 10.1017/cjn.2021.78
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- 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
Laughing gas abuse causing subacute combined spinal cord degeneration with psychiatric manifestations.
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- 2024
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- Publication type:
- Case Study
In vivo assignment of methylmalonic acid in breast tissue using 2D MRS and relationship with breast density, menopausal status and cancer risk.
- Published in:
- NMR in Biomedicine, 2023, v. 36, n. 3, p. 1, doi. 10.1002/nbm.4851
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- Article
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
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- Rheumatology International, 2018, v. 38, n. 1, p. 121, doi. 10.1007/s00296-017-3890-3
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- Article
Determination of Reference Range for B12 and Folate Levels According to Laboratory Data in an Adult Population.
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- Bagcilar Medical Bulletin / Bağcılar Tıp Bülteni, 2020, v. 5, n. 4, p. 160, doi. 10.4274/BMB.galenos.2020.07.031
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- Article
A Case Report of Nitrous Oxide-induced Myelopathy: An Unusual Cause of Weakness in an Emergency Department.
- Published in:
- 2023
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- Publication type:
- Case Study
Serum methylmalonic acid concentrations at breast cancer diagnosis significantly correlate with clinical frailty.
- Published in:
- GeroScience, 2024, v. 46, n. 2, p. 1489, doi. 10.1007/s11357-023-00908-0
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- 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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- Article
Maternal risk for Down syndrome is modulated by genes involved in folate metabolism.
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- Disease Markers, 2012, v. 32, n. 2, p. 73, doi. 10.1155/2012/693864
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- Publication type:
- Article
Heart Failure (HF) Patients Have Elevated Methylmalonic Acid (MMA) Levels, Independently of Age, Gender, HF Category or Comorbidities, Possibly Indicating Subclinical Vitamin-B12 Deficiency or a Biomarker of Oxidative Stress.
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- Rhythmos, 2020, v. 15, n. 2, p. 41
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- Publication type:
- Article
Optimising Extracellular Vesicle Metabolomic Methodology for Prostate Cancer Biomarker Discovery.
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- Metabolites (2218-1989), 2024, v. 14, n. 7, p. 367, doi. 10.3390/metabo14070367
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- Article
Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.
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- Metabolites (2218-1989), 2022, v. 12, n. 6, p. 527, doi. 10.3390/metabo12060527
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- Article
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00726
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- 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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- 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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- Article
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
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- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184897
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- Article
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
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- Metabolic Brain Disease, 2022, v. 37, n. 5, p. 1317, doi. 10.1007/s11011-022-00954-1
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- Publication type:
- Article
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
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- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1689, doi. 10.1007/s11011-018-0277-4
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- Article
Increased susceptibility of brain acetylcholinesterase activity to methylmalonate in young rats with renal failure.
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- Metabolic Brain Disease, 2013, v. 28, n. 3, p. 493, doi. 10.1007/s11011-013-9396-0
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- Publication type:
- Article
Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.
- Published in:
- 2021
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- Publication type:
- journal article
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
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- 2021
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- Publication type:
- journal article
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
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- 2020
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- Publication type:
- journal article
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
- Published in:
- 2020
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- Publication type:
- letter
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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- Article
Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study.
- Published in:
- 2020
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- Publication type:
- journal 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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- Article
Plasma methylmalonic acid predicts risk of acute myocardial infarction and mortality in patients with coronary heart disease: A prospective 2‐cohort study.
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- Journal of Internal Medicine, 2023, v. 293, n. 4, p. 508, doi. 10.1111/joim.13610
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- 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
An LC-MS/MS method for serum methylmalonic acid suitable for monitoring vitamin B12 status in population surveys.
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- Analytical & Bioanalytical Chemistry, 2015, v. 407, n. 11, p. 2955, doi. 10.1007/s00216-014-8148-2
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- Article
Rapid Underivatized Method for Quantitative Methylmalonic Acid by Liquid Chromatography--Tandem Mass Spectrometry.
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- Journal of Applied Laboratory Medicine, 2018, p. 408, doi. 10.1373/jalm.2018.026724
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- Publication type:
- Article
Long-Term Stability of 18 Nutritional Biomarkers Stored at -20 °C and 5 °C for up to 12 Months.
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- Journal of Applied Laboratory Medicine, 2018, p. 100, doi. 10.1373/jalm.2017.025478
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- Article
Methylmalonic Acid Levels and their Relation with Cobalamin Supplementation in Spanish Vegetarians.
- Published in:
- 2018
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- Publication type:
- journal article
Implementation of the serum/plasma methylmalonic acid test at the London Health Sciences Centre.
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- Western Undergraduate Research Journal: Health & Natural Sciences, 2015, v. 5, n. 1, p. 10, doi. 10.5206/wurjhns.2014-15.11
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- Publication type:
- Article
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
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- Nephrology, 2015, v. 20, n. 8, p. 576, doi. 10.1111/nep.12479
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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
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1707, doi. 10.1007/s00431-014-2330-6
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- Article
Treatment of confirmed B12 deficiency in hemodialysis patients improves Epogen® requirements.
- Published in:
- International Journal of Nephrology & Renovascular Disease, 2013, v. 6, p. 89, doi. 10.2147/IJNRD.S44660
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- 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
Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy.
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- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 11, p. 1790, doi. 10.1515/cclm-2018-1337
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- Publication type:
- Article
Combined indicator of vitamin B<sub>12</sub> status: modification for missing biomarkers and folate status and recommendations for revised cut-points.
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- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1215, doi. 10.1515/cclm-2014-0818
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- Publication type:
- Article
Comparison of four automated serum vitamin B12 assays.
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- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1205, doi. 10.1515/cclm-2014-0843
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- Publication type:
- Article
A review of the cut-off points for the diagnosis of vitamin B<sub>12</sub> deficiency in the general population.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 8, p. 1149, doi. 10.1515/cclm-2014-0784
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- Publication type:
- Article
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
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- Clinical Genetics, 2016, v. 90, n. 3, p. 252, doi. 10.1111/cge.12751
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- Article
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
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- Clinical Genetics, 2015, v. 87, n. 6, p. 576, doi. 10.1111/cge.12426
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- Publication type:
- Article
Hipervitaminosis B<sub>12</sub> persistente.
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- AMF: Actualización en Medicina de Familia, 2022, v. 18, n. 9, p. 520
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- Publication type:
- Article
Chemical Design of Heterometallic Coordination Polymers Based on {Cu(Me<sub>2</sub>mal)<sub>2</sub>} Fragment.
- Published in:
- European Journal of Inorganic Chemistry, 2017, v. 2017, n. 3, p. 547, doi. 10.1002/ejic.201601047
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- Article