33 results on '"Nanda, M."'
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2. Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations
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3. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
4. Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism
5. Improved cognition, mild anxiety-like behavior and decreased motor performance in pyridoxal phosphatase-deficient mice
6. Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry
7. Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots
8. A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids
9. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
10. A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography–tandem mass spectrometry
11. Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency
12. Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC–MS/MS: application to two new inherited defects of metabolism
13. Laboratory diagnosis of defects of creatine biosynthesis and transport
14. Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria
15. Phytanic acid α-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
16. Development and validation of a quantitative LC–tandem MS assay for hexadeca-4,7,10,13-tetraenoic acid in human and mouse plasma
17. The malate-aspartate shuttle is important for de novo serine biosynthesis.
18. CSF d-serine concentrations are similar in Alzheimer's disease, other dementias, and elderly controls.
19. Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.
20. Identification of a Human trans-3-Hydroxy-L-proline Dehydratase, the First Characterized Member of a Novel Family of Proline Racemase-like Enzymes.
21. Lung-uptake and -washout of MIBG in sarcoidosis.
22. Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease.
23. Metabolism of γ-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase.
24. Magnetic nanobiocatalyst for extraction of bioactive ingredients: A novel approach.
25. Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice.
26. P293 The effect of food allergy on growth in young children.
27. Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
28. Phytanic acid α-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts
29. Pristanic acid β-oxidation in peroxisomal disorders: studies in cultured human fibroblasts
30. Propranolol-responsive akathisia following acute encephalitis
31. Development of psychopathology in deployed armed forces in relation to plasma GABA levels.
32. Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.
33. The transmethylation cycle in the brain of Alzheimer patients
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