Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Succinate-semialdehyde dehydrogenase deficiency"'
Publikováno v:
Neurología (English Edition). 33:63-65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a341875afea6aa9c76b883a5f5ae006
https://doi.org/10.1016/j.nrleng.2015.12.018
https://doi.org/10.1016/j.nrleng.2015.12.018
Microbiota Manipulation as a Metagenomic Therapeutic Approach for Rare Inherited Metabolic Disorders
Autor:
Trevor O. Kirby, K. Michael Gibson, Madalyn Brown, Javier Ochoa-Repáraz, Jean Baptiste Roullet
Publikováno v:
Clin Pharmacol Ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e6fbf42c42a77d464748f6d12523e7f
https://pubmed.ncbi.nlm.nih.gov/31273774
https://pubmed.ncbi.nlm.nih.gov/31273774
Autor:
Ashok K. Mehta, Maneesh Gupta, Lawrence P. Carter, K. Michael Gibson, Maharaj K. Ticku, Georgianna G. Gould
Publikováno v:
Molecular Genetics and Metabolism. 88:86-89
We investigated whether succinate semialdehyde dehydrogenase deficiency alters γ-hydroxybutyric acid (GHB) receptor characteristics due to elevation of GHB levels in the mouse brain. The membrane homogenate binding and quantitative autoradiography u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0e73403b3f7b751f7d00570e95a0175
https://doi.org/10.1016/j.ymgme.2005.11.012
https://doi.org/10.1016/j.ymgme.2005.11.012
Autor:
Andreas Hahn, Bernd A. Neubauer
Publikováno v:
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie. 33:259-271
Zusammenfassung: Die Ursachen für Autismus sind heterogen und ganz überwiegend genetischer Natur. Eine exakte benennbare Ätiologie wird in weniger als 10% der Fälle gefunden. Die Enttäuschung über den geringen Erfolg bei der Ursachenfindung und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06034c03c8a581f0ff2a96a4bab52b3e
https://doi.org/10.1024/1422-4917.33.4.259
https://doi.org/10.1024/1422-4917.33.4.259
Autor:
George D. Maropoulos, Shinjiro Akaboshi, Boris M. Hogema, Gajja S. Salomons, Patrizia Malaspina, Andrea Novelletto, K. Michael Gibson, Cornelis Jakobs, Markus Grompe
Publikováno v:
Human Mutation, 22, 442-450. Wiley-Liss Inc.
Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81798c7c2b489ef9c7f3a7571c0bfdc
https://doi.org/10.1002/humu.10288
https://doi.org/10.1002/humu.10288
Publikováno v:
Pathology. 44:280-282
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccffe20a9bb2efecb3710b60401d0aae
https://doi.org/10.1097/pat.0b013e32835140c2
https://doi.org/10.1097/pat.0b013e32835140c2
Publikováno v:
Journal of inherited metabolic disease. 32(3)
Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotrans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b4ce843f7cc3a5bd8a1c61500af540
https://pubmed.ncbi.nlm.nih.gov/19455403
https://pubmed.ncbi.nlm.nih.gov/19455403
Autor:
I. A. Aligianis, P. A. Farndon, S. K. Heath, R. G. F. Gray, Mark D. Kilby, S. Akaboshi, K. M. Gibson
Publikováno v:
Journal of Inherited Metabolic Disease. 25:517-518
Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc8212ade0653ab89a121d3dd594ab62
https://doi.org/10.1023/a:1021215605013
https://doi.org/10.1023/a:1021215605013
Autor:
Andrea L. Gropman, Phillip L. Pearl
Publikováno v:
Annals of Neurology. 55:599-599
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29f60d8769d930d95abf1c6fe7ce14d3
https://doi.org/10.1002/ana.20084
https://doi.org/10.1002/ana.20084