Works matching DE "METHYLMALONIC acid"
Results: 240
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
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
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- European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 14, p. 5136
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- Article
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00726
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- Article
Tumor-produced and aging-associated oncometabolite methylmalonic acid promotes cancer-associated fibroblast activation to drive metastatic progression.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33862-0
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- 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
Specific plasma metabolite profile in intestinal Behçet's syndrome.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03484-4
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- Publication type:
- Article
Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03468-4
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- 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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- Article
Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.
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- Expert Review of Endocrinology & Metabolism, 2012, v. 7, n. 3, p. 263, doi. 10.1586/EEM.12.17
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- Publication type:
- Article
Long-Term Proton Pump Inhibitor–Acid Suppressive Treatment Can Cause Vitamin B 12 Deficiency in Zollinger–Ellison Syndrome (ZES) Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7286, doi. 10.3390/ijms25137286
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- Article
Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4998, doi. 10.3390/ijms21144998
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- Article
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 11, p. 2631, doi. 10.3390/ijms20112631
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- Publication type:
- Article
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
- Published in:
- 2017
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- Publication type:
- Case Study
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
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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- Article
UNDERSTANDING VITAMIN B<sub>12</sub>.
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- Journal of Stomatology, 2019, v. 72, n. 4, p. 184, doi. 10.5114/jos.2019.91237
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- Article
Anesthetic management of a patient with methylmalonic acidemia: a case report.
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- JA Clinical Reports, 2018, v. 4, n. 1, p. 1, doi. 10.1186/s40981-018-0209-7
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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
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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- Article
Scientific Opinion on Dietary Reference Values for cobalamin (vitamin B12).
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- EFSA Journal, 2015, v. 13, n. 7, p. 4150, doi. 10.2903/j.efsa.2015.4150
- Publication type:
- Article
Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.
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- Cell Journal (Yakhteh), 2016, v. 18, n. 3, p. 397
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- Publication type:
- Article
MMAB promotes negative feedback control of cholesterol homeostasis.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26787-7
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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
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
One Carbon Metabolism and Cognitive Impairment in Older Indians.
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- Journal of the Indian Academy of Geriatrics, 2019, v. 15, n. 4, p. 209
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- Publication type:
- Article
Deficit vitaminu B12 – další výzva k rozšíření novorozeneckého laboratorního screeningu?
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2024, v. 79, n. 3, p. 145, doi. 10.55095/cspediatrie2024/024
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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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- Publication type:
- Article
Association between neuropathy and B‐vitamins: A systematic review and meta‐analysis.
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- European Journal of Neurology, 2021, v. 28, n. 6, p. 2054, doi. 10.1111/ene.14786
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- Article
Report on the heterozygosis mutations of c.567dupT, p.(Ilel90Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.
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- Pakistan Journal of Pharmaceutical Sciences, 2016, v. 29, p. 1109
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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
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
- Published in:
- 2017
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- Publication type:
- Case Study
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
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- Publication type:
- 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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- Article
Role of serum holotranscobalamin (holoTC) in the diagnosis of patients with low serum cobalamin. Comparison with methylmalonic acid and homocysteine.
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- Annals of Hematology, 2014, v. 93, n. 4, p. 565, doi. 10.1007/s00277-013-1905-z
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- Publication type:
- Article
Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband.
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- Journal of Genetics, 2015, v. 94, n. 2, p. 295, doi. 10.1007/s12041-015-0520-2
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- Publication type:
- Article
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01122-x
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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
Vitamin B12 and folate levels in healthy Swiss senior citizens: a prospective study evaluating reference intervals and decision limits.
- Published in:
- BMC Geriatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12877-015-0060-x
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- Publication type:
- Article
Vitamin B12-Related Biomarkers.
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- Food & Nutrition Bulletin, 2024, v. 45, p. S28, doi. 10.1177/03795721241227114
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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
A rise in cases of nitrous oxide abuse: neurological complications and biological findings.
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- 2022
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- Publication type:
- Case Study
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 10, p. 2434, doi. 10.1007/s00415-019-09432-8
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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
LC–MS‐Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor‐Dependent Metabolic Disorders in Neonates.
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- Journal of Separation Science, 2024, v. 47, n. 22, p. 1, doi. 10.1002/jssc.70031
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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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- Publication type:
- 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
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