Found: 49
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Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-73
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- Publication type:
- Article
Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.
- Published in:
- 2014
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- Publication type:
- journal article
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1755, doi. 10.1007/s00439-023-02613-6
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- Publication type:
- Article
Metabolomic Profiling of Adults with Congenital Heart Disease.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 8, p. 525, doi. 10.3390/metabo11080525
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- Publication type:
- Article
Altered Brain Metabolome Is Associated with Memory Impairment in the rTg4510 Mouse Model of Tauopathy.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 2, p. 69, doi. 10.3390/metabo10020069
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- Publication type:
- Article
Altered protein phosphatase 2A methylation and Tau phosphorylation in the young and aged brain of methylenetetrahydrofolate reductase (MTHFR) deficient mice.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00214
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- Publication type:
- Article
P1-163: C-reactive protein in aging and Alzheimer’s disease: Correlation with cerebral atrophy and low plasma vitamin B6
- Published in:
- 2006
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- Publication type:
- Abstract
P1-163: C-reactive protein in aging and Alzheimer’s disease: Correlation with cerebral atrophy and low plasma vitamin B6
- Published in:
- 2006
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- Publication type:
- Abstract
Intestinal microbiota as a tetrahydrobiopterin exogenous source in hph-1 mice.
- Published in:
- Scientific Reports, 2017, p. 39854, doi. 10.1038/srep39854
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- Publication type:
- Article
Methionine Metabolites in Patients With Sepsis.
- Published in:
- Journal of Intensive Care Medicine, 2018, v. 33, n. 1, p. 37, doi. 10.1177/0885066616666002
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- Publication type:
- Article
Protective Vascular and Cardiac Effects of Inducible Nitric Oxide Synthase in Mice with Hyperhomocysteinemia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107734
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- Publication type:
- Article
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
- Published in:
- Metabolic Brain Disease, 2020, v. 35, n. 4, p. 601, doi. 10.1007/s11011-020-00550-1
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- Publication type:
- Article
Drug-Penetration Gradients Associated with Acquired Drug Resistance in Patients with Tuberculosis.
- Published in:
- 2018
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- Publication type:
- journal article
Folate Deficiency Induces In Vitro and Mouse Brain Region-Specific Downregulation of Leucine Carboxyl Methyltransferase-1 and Protein Phosphatase 2A Bα Subunit Expression That Correlate with Enhanced Tau Phosphorylation.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 45, p. 11477, doi. 10.1523/JNEUROSCI.2816-08.2008
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- Publication type:
- Article
Protein Phosphatase 2A Methyltransferase Links Homocysteine Metabolism with Tau and Amyloid Precursor Protein Regulation.
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- Journal of Neuroscience, 2007, v. 27, n. 11, p. 2751, doi. 10.1523/JNEUROSCI.3316-06.2007
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- Publication type:
- Article
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 58, doi. 10.1002/jmd2.12151
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- Publication type:
- Article
Can targeted metabolomics predict depression recovery? Results from the CO-MED trial.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0349-6
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- Publication type:
- Article
A plant-based mutant huntingtin model-driven discovery of impaired expression of GTPCH and DHFR.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 11, p. 1, doi. 10.1007/s00018-022-04587-6
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- Publication type:
- Article
Betaine attenuates pathology by stimulating lipid oxidation in liver and regulating phospholipid metabolism in brain of methionine-choline-deficient rats.
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- FASEB Journal, 2019, v. 33, n. 8, p. 9334, doi. 10.1096/fj.201802683R
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- Publication type:
- Article
Neuropathology of vitamin B<sub>12</sub> deficiency in the Cd320<sup>-/-</sup> mouse.
- Published in:
- FASEB Journal, 2019, v. 33, n. 2, p. 2563, doi. 10.1096/fj.201800754RR
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- Publication type:
- Article
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1516, doi. 10.1111/epi.17592
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- Publication type:
- Article
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 12, p. 1596, doi. 10.1111/dmcn.15659
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- Publication type:
- Article
Obituary for Dr. Lawrence "Larry" Sweetman, PhD, ABMG (1942–2022).
- Published in:
- 2023
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- Publication type:
- Obituary
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1030, doi. 10.1002/jimd.12107
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- Publication type:
- Article
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 231, doi. 10.1007/s10545-017-0107-6
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- Publication type:
- Article
Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 227, doi. 10.1007/s10545-016-9984-3
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- Publication type:
- Article
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 735, doi. 10.1007/s10545-013-9675-2
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- Publication type:
- Article
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 39, doi. 10.1007/s10545-013-9627-x
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- Publication type:
- Article
Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH mice.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 513, doi. 10.1007/s10545-012-9524-8
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- Publication type:
- Article
Pharmacodynamics of cerebrospinal fluid asparagine after asparaginase.
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- Cancer Chemotherapy & Pharmacology, 2021, v. 88, n. 4, p. 655, doi. 10.1007/s00280-021-04315-0
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- Publication type:
- Article
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.629
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- Publication type:
- Article
Memantine Protects From Exacerbation of Ischemic Stroke and Blood Brain Barrier Disruption in Mild But Not Severe Hyperhomocysteinemia.
- Published in:
- 2020
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- Publication type:
- journal article
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 6, p. 1182, doi. 10.1093/hmg/ddx032
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- Publication type:
- Article
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09538-9
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- Publication type:
- Article
Relationship of Cerebrospinal Fluid Vitamin B12 Status Markers With Parkinson's Disease Progression.
- Published in:
- 2020
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- Publication type:
- journal article
Longitudinal profiling of plasma and urine metabolites during liver regeneration in living liver donors.
- Published in:
- Clinical Transplantation, 2022, v. 36, n. 1, p. 1, doi. 10.1111/ctr.14490
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- Publication type:
- Article
Increasing breast milk betaine modulates Akkermansia abundance in mammalian neonates and improves long-term metabolic health.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 587, p. 1, doi. 10.1126/scitranslmed.abb0322
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- Publication type:
- Article
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Sleep Research, 2024, v. 33, n. 4, p. 1, doi. 10.1111/jsr.14105
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- Publication type:
- Article
Revisiting One-Carbon Metabolites in Human Breast Milk: Focus on S-Adenosylmethionine.
- Published in:
- Nutrients, 2023, v. 15, n. 2, p. 282, doi. 10.3390/nu15020282
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- Publication type:
- Article
Absorption and Tissue Distribution of Folate Forms in Rats: Indications for Specific Folate Form Supplementation during Pregnancy.
- Published in:
- Nutrients, 2022, v. 14, n. 12, p. 2397, doi. 10.3390/nu14122397
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- Publication type:
- Article
[6 S ]-5-Methyltetrahydrofolic Acid and Folic Acid Pregnancy Diets Differentially Program Metabolic Phenotype and Hypothalamic Gene Expression of Wistar Rat Dams Post-Birth.
- Published in:
- Nutrients, 2021, v. 13, n. 1, p. 48, doi. 10.3390/nu13010048
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- Publication type:
- Article
Deficiency of superoxide dismutase promotes cerebral vascular hypertrophy and vascular dysfunction in hyperhomocysteinemia.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175732
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- Publication type:
- Article
Changes in Methionine Metabolism and Histone H3 Trimethylation Are Linked to Mitochondrial Defects in Multiple Sclerosis.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 45, p. 15170, doi. 10.1523/JNEUROSCI.4349-14.2015
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- Publication type:
- Article
Acute Administration of L-Dopa Induces Changes in Methylation Metabolites, Reduced Protein Phosphatase 2A Methylation, and Hyperphosphorylation of Tau Protein in Mouse Brain.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 27, p. 9173, doi. 10.1523/JNEUROSCI.0125-12.2012
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- Publication type:
- Article
Hyperhomocysteinemia Potentiates Hyperglycemia-Induced Inflammatory Monocyte Differentiation and Atherosclerosis.
- Published in:
- Diabetes, 2014, v. 63, n. 12, p. 4275, doi. 10.2337/db14-0809
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- Publication type:
- Article
Plasma S-adenosylmethionine, DNMT polymorphisms, and peripheral blood LINE-1 methylation among healthy Chinese adults in Singapore.
- Published in:
- BMC Cancer, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2407-13-389
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- Publication type:
- Article
Plasma S-adenosylmethionine, DNMT polymorphisms, and peripheral blood LINE-1 methylation among healthy Chinese adults in Singapore.
- Published in:
- 2013
- By:
- Publication type:
- journal article