28 results on '"Veiga-da-Cunha, Maria"'
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2. DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
3. The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb
4. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
5. The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate
6. Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis
7. Off to a slow start: Analyzing lag phases and accelerating rates in steady-state enzyme kinetics
8. Endogenous sphingomyelin segregates into submicrometric domains in the living erythrocyte membrane
9. Metabolite Proofreading in Carnosine and Homocarnosine Synthesis
10. Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine
11. Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading
12. Molecular Identification of NAT8 as the Enzyme That Acetylates Cysteine S-Conjugates to Mercapturic Acids
13. Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)
14. Molecular identification of ω-amidase, the enzyme that is functionally coupled with glutamine transaminases, as the putative tumor suppressor Nit2
15. Mammalian Phosphomannomutase PMM1 Is the Brain IMP-sensitive Glucose-1,6-bisphosphatase
16. Molecular Identification of Mammalian Phosphopentomutase and Glucose-1,6-bisphosphate Synthase, Two Members of the α-D-Phosphohexomutase Family
17. Fructosamine 3-kinase and other enzymes involved in protein deglycation
18. Identification of the cDNA encoding human 6-phosphogluconolactonase, the enzyme catalyzing the second step of the pentose phosphate pathway(1).
19. Structure of the gene mutated in glycogen storage disease type Ib.
20. Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young
21. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
22. Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate
23. Identification of Fructose 6-Phosphate- and Fructose 1-Phosphate-binding Residues in the Regulatory Protein of Glucokinase
24. Overexpression and Purification of Fructose-1-Phosphate Kinase from Escherichia coli: Application to the Assay of Fructose 1-Phosphate
25. Structure of the gene mutated in glycogen storage disease type Ib
26. A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic
27. Amino Acid Conservation in Animal Glucokinases
28. Enzymatic Assays of Fructose-1-phosphate and Fructose-1,6-bisphosphate in the Picomole Range
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