Zobrazeno 1 - 10
of 37
pro vyhledávání: '"P, Ledaal"'
Autor:
Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen
Publikováno v:
BMC Medical Genetics, Vol 6, Iss 1, p 21 (2005)
Abstract Background Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for
Externí odkaz:
https://doaj.org/article/d1e591545d4245d28627aadc6e1a1979
Autor:
Hans Hartmann, J. Herchenbach, Frank Donnerstag, U. Stephani, Moritz Meins, H. J. Christen, P. Ledaal, M. Hagedorn, Anibh M. Das, Thomas Lücke
Publikováno v:
Neuropediatrics. 38:143-147
Alexander disease is a rare disorder of cerebral white matter due to a dysfunction of astrocytes. The most common infantile form presents as a megalencephalic leukodystrophy. Mutations of the GFAP gene, encoding Glial Fibrillary Acidic Protein, have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b61ff3a86334fab450b62884893a022
https://doi.org/10.1055/s-2007-985902
https://doi.org/10.1055/s-2007-985902
Autor:
A. Pascotto, G. Bellini, Jens Michael Hertz, P Ledaal, E. Miraglia del Giudice, Giangennaro Coppola
Publikováno v:
Miraglia Del Giudice, E, Coppola, G, Bellini, G, Ledaal, P, Hertz, J M & Pascotto, A 2003, ' A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia ', Journal of Medical Genetics, vol. 40, no. 5, pp. e71 .
ResearcherID
ResearcherID
Hyperekplexia or startle disease (STHE, OMIM 149400) is a rare neurological disorder characterised by neonatal generalised muscular hypertonia followed by a period of generalised stiffness and by an exaggerated startle response to sudden external sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20582eaf369b6ebe70ae3ee0692f8fb0
http://hdl.handle.net/11386/3098564
http://hdl.handle.net/11386/3098564
Autor:
M, Minousis, P, Ledaal
Publikováno v:
Ugeskrift for laeger. 161(35)
Glukose-6-phosphate dehydrogenase (G6PD) is essential in protecting the red cell from oxidative damage. We report a case of acute haemolysis in a child with G6PD deficiency. Because of the severity of the anaemia, the patient was treated with blood t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::daa70a0a032d5e421aeeb1aac22092f6
https://pubmed.ncbi.nlm.nih.gov/10778318
https://pubmed.ncbi.nlm.nih.gov/10778318
Akademický článek
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Akademický článek
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Akademický článek
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Publikováno v:
Acta paediatrica Scandinavica. 77(6)
The unusual karyotype 4S,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2999364394c49139081095d9734f13b
https://pubmed.ncbi.nlm.nih.gov/3207028
https://pubmed.ncbi.nlm.nih.gov/3207028
Autor:
K L, Reichelt, K, Hole, A, Hamberger, G, Saelid, P D, Edminson, C B, Braestrup, O, Lingjaerde, P, Ledaal, H, Orbeck
Publikováno v:
Advances in biochemical psychopharmacology. 28
It is well documented that peptides have a major role in the effective functioning of higher animals at all levels from enzyme stabilization to homeostatic mechanisms governing essential functions such as eating, sexual behavior, and temperature regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::51e7c1551d59fb42b7e67d4ed257988a
https://pubmed.ncbi.nlm.nih.gov/7010949
https://pubmed.ncbi.nlm.nih.gov/7010949
Autor:
P, Ledaal
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 102(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ec21807bad0b94abdbd910e32775318e
https://pubmed.ncbi.nlm.nih.gov/6297120
https://pubmed.ncbi.nlm.nih.gov/6297120