Zobrazeno 1 - 7
of 7
pro vyhledávání: '"August F. Van Elsen"'
Autor:
Stephen T. Warren, Irene Dijkstra, Paul Coucke, Bart J. Van der Auwera, Patrick J. Willems, Oebele F. Brouwer, Willy O. Renier, Christine Van Broeckhoven, Sallie B. Freeman, August F. Van Elsen, Jan E. Dumon, Peter Raeymaekers, Giacomo G. Consalez, Han G. Brunner, L Vits
Publikováno v:
GENOMICS, 8(2), 367-370. ACADEMIC PRESS INC ELSEVIER SCIENCE
Genomics: international journal of gene mapping and nucleotide sequencing
Genomics: international journal of gene mapping and nucleotide sequencing
X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs. Prenatal diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7786737277b756c0824aca99b43cdb3e
https://pubmed.ncbi.nlm.nih.gov/1979056
https://pubmed.ncbi.nlm.nih.gov/1979056
Autor:
Abdul Waheed, Kurt von Figura, J. G. Leroy, August F. Van Elsen, Regina Pohlmann, Andrej Hasilik
Publikováno v:
Biochemical and Biophysical Research Communications. 105:1052-1058
A N-acetylglucosamine-1-phosphotransferase is involved in synthesis of a common phosphorylated recognition marker in lysosomal enzymes. Absence of this enzyme in liver, spleen, kidney and brain of two patients with I-cell disease is now reported. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::690e00b8177b32ed6f8f09c54177b01e
https://doi.org/10.1016/0006-291x(82)91076-2
https://doi.org/10.1016/0006-291x(82)91076-2
Publikováno v:
Clinica Chimica Acta. 93:85-92
A new technique is introduced for the differential assay of arylsulphatases A and B in centrifuged homogenates of cultured human skin fibroblasts, using 4-methylumbelliferyl-sulphate as a substrate and AgNO3 as a selective inhibitor of arylsulphatase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::123005065214a32a912dd6c2f45da31d
https://doi.org/10.1016/0009-8981(79)90247-x
https://doi.org/10.1016/0009-8981(79)90247-x
Publikováno v:
Human Genetics. 31:75-81
Serum N-acetyl-beta-D-hexosaminidase is compared quantitatively and qualitatively in 14 obligate heterozygotes for the mutant gene causing I cell disease (ICD) or mucolipidosis II and in 31 normal controls. The average specific activity in either gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f045acd8ead0d10c7e594709b2dad7f5
https://doi.org/10.1007/bf00270402
https://doi.org/10.1007/bf00270402
Autor:
Jean-Jacques Martin, Jan E. Dumon, Jules G. Leroy, Carmen Navarro, Shintaro Okada, André E. Hulet, August F. Van Elsen
Publikováno v:
New England Journal of Medicine. 288:1365-1369
Infantile metachromatic leukodystrophy was diagnosed in utero by the absence of arylsulfatase A in cultured amniotic-fluid cells. The diagnosis was confirmed since enzyme activity was not demonstrable in cultured fetal skin fibroblasts, liver, or bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e8ed6903dbd51b3f401de5d4864d3fe
https://doi.org/10.1056/nejm197306282882602
https://doi.org/10.1056/nejm197306282882602
Autor:
Jules G. Leroy, August F. Van Elsen
Publikováno v:
Biochemical and biophysical research communications. 62(2)
Arginase activity has been demonstrated in cultured diploid fibroblasts and compared with that of the known arginases in other human tissues. In liver, kidney, erythrocytes and fibroblasts the ratios of specific activities are 750/45/45/1 respectivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e651c3e76ac4cb6356f2b78f29a8366d
https://pubmed.ncbi.nlm.nih.gov/234223
https://pubmed.ncbi.nlm.nih.gov/234223
Publikováno v:
Biochemical Society Transactions. 5:1117-1117
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec25f03ef41d32c34f1c8ffb3fb36a5
https://doi.org/10.1042/bst0051117
https://doi.org/10.1042/bst0051117