Zobrazeno 1 - 10
of 307
pro vyhledávání: '"G, Seidlitz"'
Autor:
G. Kraatz
Publikováno v:
Berliner entomologische Zeitschrift. 15:291-292
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba09cda50c7c77894274ed4c831b4736
https://doi.org/10.1002/mmnd.18710150238
https://doi.org/10.1002/mmnd.18710150238
Autor:
Schröder W, Manfred Wehnert, Marlies Zschiesche, L. Petruschka, G. Seidlitz, Falko H. Herrmann, J J Hopwood
Publikováno v:
Journal of Medical Genetics. 30:210-213
DNA based and biochemical diagnosis of MPS II was performed on 13 unrelated families using Southern blotting. The 35S-sulphate accumulation in cultured fibroblasts was investigated and the iduronate-2-sulphatase (IDS) activity in the serum determined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c48cb0ddeb46d23c245ae782590a2b1
https://doi.org/10.1136/jmg.30.3.210
https://doi.org/10.1136/jmg.30.3.210
Autor:
J. F. Jackson, G. J. de Klerk, K. S. Ramulu, J. Sybenga, G. Wenzel, G. Seidlitz, L. Bünger, R. C. Agoha, E. Günther, D. L. Mulcahy, J. A. M. Van der Mey, R. L. M. Pierik, F. H. Herrmann, P. Eberle
Publikováno v:
Theoretical and Applied Genetics. :1017-1022
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3ab924ded2b330b126e7d2a51135025
https://doi.org/10.1007/bf00227419
https://doi.org/10.1007/bf00227419
Autor:
F. H. Herrmann, G. Machill, G. Seidlitz, John J. Hopwood, M. Zschiesche, J. Bielicki, L. Petruschka
Publikováno v:
Journal of Inherited Metabolic Disease. 17:89-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25443595cfba2cf896e792eb4b2cdf77
https://doi.org/10.1007/bf00735402
https://doi.org/10.1007/bf00735402
Autor:
M.-L. Steén-Bondeson, G. Seidlitz, Wim J. Kleijer, Charles P. Morris, Tönne Tonnesen, P. J. Wilson, Ulf Pettersson, John J. Hopwood, Niklas Dahl, Gustavson Kh
Publikováno v:
Scopus-Elsevier
Hunter syndrome or mucopolysaccharidoses type II (MPS-II), is a lysosomal storage disorder caused by a deficiency in the activity of the enzyme iduronate-2-sulphatase (IDS). We have investigated the occurrence of rearrangements and deletions of the I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84eb34bfc1cd3e415ea887e50737cd6
https://doi.org/10.1093/hmg/1.3.195
https://doi.org/10.1093/hmg/1.3.195
Publikováno v:
Zeitschrift für Geburtshilfe und Neonatologie. 213
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3da955905997b66d3bc11270fad9ef99
https://doi.org/10.1055/s-0029-1223046
https://doi.org/10.1055/s-0029-1223046
Autor:
Kraatz, G.
Publikováno v:
Deutsche Entomologische Zeitschrift; 1871, Vol. 15 Issue 2/3, p291-292, 2p
Publikováno v:
European journal of pediatrics. 155
The German maternal phenylketonuria (MPKU) Study began in 1989 and since 1992 works together with the American-Canadian MPKU Study. Main goals of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881416e031edb13982b17545b16c4722
https://pubmed.ncbi.nlm.nih.gov/8828639
https://pubmed.ncbi.nlm.nih.gov/8828639
Publikováno v:
Human mutation. 4(2)
Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60594d1cd0fc6819fbb7bc87762c013a
https://pubmed.ncbi.nlm.nih.gov/7981716
https://pubmed.ncbi.nlm.nih.gov/7981716
Autor:
Machill G, Ingrid Ahlbehrendt, Grimm U, G. Seidlitz, W. Tittelbach-Helmrich, H. J. Böhme, P. Bührdel, Annelore Naumann, T. Schneider
Publikováno v:
European journal of pediatrics. 153(7 Suppl 1)
Since the early 1970s selective screening for inherited metabolic disorders has been performed in larger children's hospitals or metabolic centres of the former East-Germany. As a rule the following methods were employed: initially paper chromatograp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8089cfc284f88e5b55ba68c3809cdfaf
https://pubmed.ncbi.nlm.nih.gov/7957379
https://pubmed.ncbi.nlm.nih.gov/7957379