141 results on '"Klepper, Jörg"'
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2. Disorders of Glucose and Monocarboxylate Transporters
3. Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
4. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
5. Disorders of Glucose Transport
6. Disorders of Carbohydrate Metabolism and Glucose Transport
7. Disorders of Glucose Transport
8. Originalarbeit: Der Glukosetransporter (Glut1)-Defekt. Ein neues Syndrom als Herausforderung für die Sprach- und Sprechtherapie
9. Disorders of Glucose Transport
10. GLUT1 deficiency syndrome in clinical practice
11. Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics
12. Oligoclonal bands predict multiple sclerosis in children with optic neuritis
13. Expect the unexpected: favourable outcome in Munchausen by proxy syndrome
14. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
15. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review
16. Defective Glucose Transport Across Brain Tissue Barriers: A Newly Recognized Neurological Syndrome
17. Disorders of Glucose Transport
18. The Ketogenic Diet in Children with Glut1 Deficiency Syndrome and Epilepsy
19. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
20. Repeated detection of gas in the portal vein after liver transplantation: A sign of EBV-associated post-transplant lymphoproliferation?
21. Progressive dystonia in a 12-year-old boy
22. P 256. Use of Ketogenic Diets in patients with Epilepsy and Metabolic Disorders in Germany, Austria, and Switzerland
23. FV 330. Have We Done Wrong? Long-Term Follow-up of Cardiovascular Risk Factors in Glut1-Deficiency Treated with Ketogenic Diet Therapies
24. FV 236. Twenty-five Years Glut1 Deficiency in Neuropediatrics—The Importance for Adult Neurology
25. Chronische Candida-Meningitis bei einem 5-jährigen Mädchen mit homozygotem CARD9 Gendefekt
26. Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X)
27. Anoxic-epileptic seizures
28. Glucose transporter 1 (GLUT1) deficiency syndrome
29. Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene
30. First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene
31. Die ketogene Ernährung - Rolle der Kinderkrankenschwester
32. Novel nuclear encoded autosomal recessive mitochondriopathy
33. Disorders of Glucose Transport
34. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
35. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome.
36. Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
37. Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
38. Expect the unexpected: favourable outcome in Munchausen by proxy syndrome
39. GLUT1 Deficiency With Delayed Myelination Responding to Ketogenic Diet
40. Exhaled Nitric Oxide in Children after Accidental Exposure to Chlorine Gas
41. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis
42. Bench Meets Bedside: A 10-Year-Old Girl and Amino Acid Residue Glycine 75 of the Facilitative Glucose Transporter GLUT1
43. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
44. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
45. Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene
46. Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
47. Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS): Methylxanthines Potentiate GLUT1 Haploinsufficiency In Vitro
48. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
49. Hypoglycorrhachia: A simple clue, simply missed
50. GLUT1-Deficiency: Barbiturates Potentiate Haploinsufficiency in Vitro
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