1,879 results on '"Jakobs, C"'
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2. Endovascular Aneurysm Repair of Aortoiliac Aneurysms with an Iliac Side-branched Stent graft: Studying the Morphological Applicability of the Cook Device
3. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
4. Biochemical Studies
5. Phytanoyl-CoA Hydroxylase Deficiency : Enzymological and Molecular Basis of Classical Refsum Disease
6. Disorders of Neurotransmission
7. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency
8. Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography-mass spectrometry
9. Disorders of Neurotransmitters
10. Plasma Polyol Levels in Patients with Cataract
11. Spatial variability of the snowmelt–albedo feedback in Antarctica
12. Spatial variability of the snowmelt–albedo feedback in Antarctica
13. Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
14. Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
15. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
16. Patterns of free amino acids in German convenience food products: marked mismatch between label information and composition
17. Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
18. Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria
19. Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboons
20. Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men
21. Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients
22. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review
23. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
24. Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
25. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 −/− mice and characterization of γ-hydroxybutyric acid pharmacology
26. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency
27. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
28. X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
29. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency
30. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview
31. Low elevation of Svalbard glaciers drives high mass loss variability
32. Low elevation of Svalbard glaciers drives high mass loss variability
33. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency ( Aldh5a1−/− mice)
34. [6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adults
35. Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance toD-2-hydroxyglutaric and γ-hydroxybutyric acidurias
36. Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism
37. Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography–tandem mass spectrometry: Application to SSADH deficiency
38. Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats
39. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
40. Spatial Variability of the Snowmelt‐Albedo Feedback in Antarctica
41. X-linked creatine transporter defect: An overview
42. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
43. D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings
44. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
45. Creatine
46. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
47. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
48. Impact of AIM2-Inflammasome activation on adaptive immune responses after cutaneous DNA-Vaccination: W03.003
49. CB1 receptor deficiency in epidermal keratinocytes promotes contact allergic inflammation and delays epidermal barrier repair response: P151
50. D-2-Hydroxyglutaric aciduria: Further clinical delineation
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