Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ulrich Langenbeck"'
Publikováno v:
Digestive Diseases and Sciences. 40:28-32
The inheritance of Crigler-Najjar syndrome type II (CNS II) is still unclear. Both autosomal dominant transmission with variable penetrance and autosomal recessive transmission have been reported. We describe the diagnosis of CNS II in an adult patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b69bce4bbce20bb2dd340bbfa242af
https://doi.org/10.1007/bf02063937
https://doi.org/10.1007/bf02063937
Publikováno v:
Molecular genetics and metabolism.
This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hyperphenylalaninemia, including tetrahydrobiopterin (BH4) deficiency. It is a product of the recent workshop or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e51029629a9c30931ed764948cafba
https://pubmed.ncbi.nlm.nih.gov/21937252
https://pubmed.ncbi.nlm.nih.gov/21937252
Publikováno v:
Pediatric Research. 30:430-434
Total body and renal elimination of L-alloisoleucine was assessed after oral loads (0.57 mmol/kg body wt) in four healthy subjects and in five patients with maple syrup urine disease (MSUD) of different degrees of severity. As judged from the fictive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da28a7d699cc65552eb9beaae2dcbbb0
https://doi.org/10.1203/00006450-199111000-00007
https://doi.org/10.1203/00006450-199111000-00007
Publikováno v:
American Journal of Medical Genetics. 87:273-275
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::887e85bef13206753a556c6af687afde
https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co
Publikováno v:
The Lancet. 337:1477-1479
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e64e8e38223b47c0d2f2ad913140e3ba
https://doi.org/10.1016/0140-6736(91)93167-8
https://doi.org/10.1016/0140-6736(91)93167-8
Autor:
Ulrich Langenbeck
Publikováno v:
Ethik in der Medizin. 17:341-341
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66e3942234d29ac430eb2b115974f735
https://doi.org/10.1007/s00481-005-0374-x
https://doi.org/10.1007/s00481-005-0374-x
Publikováno v:
Hepatology. 4:667-670
Valine (62.5 mg per kg), leucine (70 mg per kg) and equal amounts of the calcium salts of the corresponding keto acids, i.e., alpha-ketoisovaleric acid (KIVA) and alpha-ketoisocaproic acid (KICA) were orally administered to patients with cirrhosis an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c7f76f88ad943df3a65f7cb1db34dd
https://doi.org/10.1002/hep.1840040417
https://doi.org/10.1002/hep.1840040417
Publikováno v:
Analytical Biochemistry. 180:91-94
A simple, rapid, accurate, and precise colorimetric assay for the determination of L-phenylalanine in plasma samples using L-phenylalanine dehydrogenase [L-phenylalanine:NAD+-oxidoreductase (deaminating)] from Rhodococcus sp. M 4 is described. The en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd74ee9391935564eff07b42c85a1749
https://doi.org/10.1016/0003-2697(89)90092-4
https://doi.org/10.1016/0003-2697(89)90092-4