Zobrazeno 1 - 10
of 328
pro vyhledávání: '"U, Langenbeck"'
Publikováno v:
Medizinische Genetik. 22:213-220
Zusammenfassung Orphanet ist eine relationale Datenbank über seltene Krankheiten und Arzneimittel für seltene Krankheiten (Orphan Drugs). Die internetbasierte Informationsplattform wurde im Jahr 1997 durch das französische Gesundheitsministerium u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01a0ee6a22f79c686f82e885c9c75efe
https://doi.org/10.1007/s11825-010-0219-y
https://doi.org/10.1007/s11825-010-0219-y
Publikováno v:
Journal of Inherited Metabolic Disease. 32:506-513
Background: As part of the German Collaborative Study of Children Treated for Phenylketonuria (PKU), a three-day protein loading test was applied to children at 6 months of age. This load elicits three principal types of blood phenylalanine (Phe) res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::054a981c7d44e9b34c242c99c780dc93
https://doi.org/10.1007/s10545-009-1152-6
https://doi.org/10.1007/s10545-009-1152-6
Autor:
A. Schmidt, Albert Schinzel, H. Zankl, A. Wirtz, H. Veenema, R.-D. Wegner, Merve Zankl, E. Kab, Ursula Froster-Iskenius, Eberhard Schwinger, U. Langenbeck, A. Rodewald, Peter Steinbach
Publikováno v:
Clinical Genetics. 30:1-13
The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a726b4f70751f8d9f28b80608ebb72ca
https://doi.org/10.1111/j.1399-0004.1986.tb00563.x
https://doi.org/10.1111/j.1399-0004.1986.tb00563.x
Autor:
U. Langenbeck
Publikováno v:
Journal of Inherited Metabolic Disease. 31:67-72
A significant percentage of patients with hyperphenylalaninaemia (HPA) due to primary deficiency of the phenylalanine hydroxylase enzyme (PAH) respond to a dose of tetrahydrobiopterin (BH(4)) with an increased rate of phenylalanine (Phe) disposal. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::872b37c777b8f72a801823b3a7ddc96d
https://doi.org/10.1007/s10545-007-0572-4
https://doi.org/10.1007/s10545-007-0572-4
Autor:
S. Halvorsen, U. Langenbeck, Ragnhild Kiil, Brita Merton, D. Brackertz, Torgeir Rokkones, Walter Keller, H. W. Goedde
Publikováno v:
Acta Paediatrica. 59:83-87
Summary Intermittent branched-chain ketoaciduria was detected in two Norwegian families. All three patients had normal intelligence. One died during an acute acidotic attack at the age of 8 years. The biochemical and clinical data in the two families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b824c9c139cfce512f97d5084aff7a
https://doi.org/10.1111/j.1651-2227.1970.tb15519.x
https://doi.org/10.1111/j.1651-2227.1970.tb15519.x
Autor:
Peter Burgard, Johannes Zschocke, E. Mönch, Hyperphenylalaninaemia (Hpa), Udo Wendel, U. Langenbeck
Publikováno v:
JIMD Reports ISBN: 9783662532775
As part of the German Collaborative Study on Phenylketonuria (PKU)/Hyperphenylalaninaemia (HPA) Study Protocol, a Blaskovics protein loading test (180 mg phenylalanine (phe) protein equivalent per kg body weight and day for 72 h) had been applied to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f555f74281fab0c40c6c1621b48cf1
https://doi.org/10.1007/8904_2015_508
https://doi.org/10.1007/8904_2015_508
Publikováno v:
Journal of Inherited Metabolic Disease. 29:716-724
Background: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0251eef61736815c2352f5ff77ea9937
https://doi.org/10.1007/s10545-006-0276-1
https://doi.org/10.1007/s10545-006-0276-1
Publikováno v:
HNO. 48:650-654
Hintergrund und Fragestellung. Eine Aspirin-(ASS-)Intoleranz kommt bei Asthmatikern in 8–20% und bei Patienten mit Nasenpolypen in 6–15% der Falle vor. Diese Assoziation und Berichte uber das Betroffensein von Familienmitgliedern lassen eine gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ee8a1a97ffe494efd5187c6c021dade
https://doi.org/10.1007/s001060050634
https://doi.org/10.1007/s001060050634