36 results on '"Klepper, Jörg"'
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2. Disorders of Glucose Transport
3. Disorders of Glucose Transport
4. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
5. P 256. Use of Ketogenic Diets in patients with Epilepsy and Metabolic Disorders in Germany, Austria, and Switzerland
6. FV 330. Have We Done Wrong? Long-Term Follow-up of Cardiovascular Risk Factors in Glut1-Deficiency Treated with Ketogenic Diet Therapies
7. FV 236. Twenty-five Years Glut1 Deficiency in Neuropediatrics—The Importance for Adult Neurology
8. Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics
9. Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X)
10. Anoxic-epileptic seizures
11. Glucose transporter 1 (GLUT1) deficiency syndrome
12. Disorders of Glucose Transport
13. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
14. Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
15. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
16. The Ketogenic Diet in Children with Glut1 Deficiency Syndrome and Epilepsy
17. Expect the unexpected: favourable outcome in Munchausen by proxy syndrome
18. GLUT1 Deficiency With Delayed Myelination Responding to Ketogenic Diet
19. Exhaled Nitric Oxide in Children after Accidental Exposure to Chlorine Gas
20. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis
21. Bench Meets Bedside: A 10-Year-Old Girl and Amino Acid Residue Glycine 75 of the Facilitative Glucose Transporter GLUT1
22. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
23. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
24. Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene
25. Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
26. Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
27. Progressive dystonia in a 12-year-old boy
28. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
29. Repeated detection of gas in the portal vein after liver transplantation: A sign of EBV-associated post-transplant lymphoproliferation?
30. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review
31. Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS): Methylxanthines Potentiate GLUT1 Haploinsufficiency In Vitro
32. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
33. Hypoglycorrhachia: A simple clue, simply missed
34. GLUT1-Deficiency: Barbiturates Potentiate Haploinsufficiency in Vitro
35. Epilepsy in shunt‐treated hydrocephalus
36. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
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