Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Baerbel Leiendecker"'
Autor:
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose trans
Externí odkaz:
https://doaj.org/article/2fa0007690e94933a2416d2145d27364
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 10-11 (2020)
Externí odkaz:
https://doaj.org/article/1a26df28c0ab46e5ba5f8d5c499c8f7e
Publikováno v:
JIMD Reports
JIMD Reports, Vol 53, Iss 1, Pp 10-11 (2020)
JIMD Rep. 53, 10-11 (2020)
JIMD Reports, Vol 53, Iss 1, Pp 10-11 (2020)
JIMD Rep. 53, 10-11 (2020)
CA extern
Publikováno v:
Neuropediatrics. 47:132-136
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on the diet a gradual increase of b
Autor:
Nicole Heussinger, Robert Dalla Pozza, Adela Della Marina, Andreas Beyerlein, Baerbel Leiendecker, Joerg Klepper, Sofia Hermann-Alves
Publikováno v:
Clin. Nutr. 37, 2246-2251 (2018)
Background and aims: Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively by high-fat carbohydrate-restricted ketogenic diet therapies (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6534f5f9b06cdb6a55a94bf1e283cde2
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52477
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52477
Background Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e23b8d2ac56d35854bb2b40e384e25
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85042096764
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85042096764
Publikováno v:
Neuropediatrics. 47
Publikováno v:
Movement Disorders Clinical Practice
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise‐induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d340e6c97b40954ee5909619f01a5c5e
https://www.ncbi.nlm.nih.gov/pubmed/28042592
https://www.ncbi.nlm.nih.gov/pubmed/28042592
Autor:
Joerg Klepper, Baerbel Leiendecker
Publikováno v:
Monatsschrift Kinderheilkunde. 159:739-744
Ungefahr 10% aller Epilepsien im Kindesalter sind pharmakoresistent. Hier ist die ketogene Diat als erfolgreiche Therapieoption weltweit etabliert. Die durch Kohlenhydratrestriktion und hohe Fettzufuhr entstehende Ketose kann antikonvulsiv wirken und
Autor:
Baerbel Leiendecker, Joerg Klepper
Publikováno v:
Developmental Medicine & Child Neurology. 49:707-716
GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypog