345 results on '"Veiga-da-Cunha, Maria"'
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2. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
3. SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia
4. DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
5. Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates
6. A novel gluconeogenic route enables efficient use of erythritol in zoonotic Brucella
7. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
8. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
9. Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione
10. Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
11. Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
12. Oral SGLT2 Inhibitors in Glycogen Storage Disease Type Ib and G6PC3-Deficiency. Preliminary Results from an Off-Label Study of 21 Patients
13. Co-fermentations of sugar and glycerol by lactobacilli
14. Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report
15. A conserved phosphatase destroys toxic glycolytic side products in mammals and yeast
16. Cholesterol segregates into submicrometric domains at the living erythrocyte membrane: evidence and regulation
17. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
18. Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report.
19. Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients.
20. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
21. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5
22. Successful use of empagliflozin to treat neutropenia in two G6PC3 ‐deficient children: Impact of a mutation in SGLT5
23. Enzyme complexity in intermediary metabolism
24. The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb
25. C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA
26. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
27. CHAPTER 6. The Biochemistry of Enzymes Producing Carnosine and Anserine
28. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
29. The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate
30. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
31. Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
32. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
33. The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb.
34. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.
35. The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate
36. Additional file 2 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
37. Additional file 3 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
38. Additional file 1 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
39. Metabolite proofreading, a neglected aspect of intermediary metabolism
40. Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?
41. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
42. Enzymatic repair of Amadori products
43. Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase
44. The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate
45. Fructose utilization in Lactococcus lactis as a model for low-GC gram-positive bacteria: its regulator, signal, and DNA-binding site
46. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria
47. How many forms of glycogen storage disease type I?
48. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
49. Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis
50. Off to a slow start: Analyzing lag phases and accelerating rates in steady-state enzyme kinetics
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