Zobrazeno 1 - 10 of 150 pro vyhledávání: '"G, Seidlitz"'
1
Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk
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
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4
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene
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
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6
German Maternal Phenylketonuria Study
Autor: S. Cipcic-Schmidt, Kurt Ullrich, G. Seidlitz, F. K. Trefz, B Fünders
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
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7
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)
Autor: Winnie Schröder, Karin Wulff, Manfred Wehnert, Falko H. Herrmann, G. Seidlitz
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
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8
Results of selective screening for inborn errors of metabolism in the former East Germany
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
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9
[Mucopolysaccharidoses. Genetics, clinical pathology, therapeutic regimes]
Autor: R, Warzok, G, Seidlitz
Publikováno v: Zentralblatt fur Pathologie. 138(3)
In recent years, several clinical and biochemical studies have been published contributing to better understanding of mucopolysaccharide storage diseases. Our purpose, therefore, is, to give an updated survey of this group of lysosomal diseases for d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3eefe8f09a827996cb8f15b4f253f2b6
https://pubmed.ncbi.nlm.nih.gov/1525134
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10
[Maternal phenylketonuria. Problems in detecting and risk educating identified females]
Autor: H J, Salize, B, Fünders-Bücker, U, Knorrek, S, Kolbe, V, Pietsch, G, Seidlitz, K, Ullrich, F K, Trefz
Publikováno v: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde. 140(1)
Maternal PKU is an embryo-fetopathy caused by elevated plasmaphenylalanine levels in pregnant women with hyperphenylalaninemia and phenylketonuira. Leading symptoms are microcephaly, mental retardatioin and congenital malformations, especially congen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f010391c4cc04a7e2cf9c77cd6b899be
https://pubmed.ncbi.nlm.nih.gov/1565107
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