Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

F K Trefz

Showing results (11-20 of 70) with videos related to

Pageof 7
Sort By:
Acta Vitaminologica Et Enzymologica|January 1, 1975
A study of urinary tryptophan metabolites in relation to the phenylalanine content of semi-synthetic diets in a patient with phenylketonuriaD J Byrd, W Kochen, L Schürrle, et al.
Journal of Inherited Metabolic Disease|October 29, 2008
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuriaF K Trefz, D Scheible, H Götz, et al.
Monographs in Human Genetics|January 1, 1978
In vivo determination of phenylalanine hydroxylase activity using heptadeutero-phenylalanine and comparison to the in vitro assay valuesF K Trefz, K Bartholomé, H Bickel, et al.
Monatsschrift Fur Kinderheilkunde|May 1, 1980
[Familial nesidioblastosis]F K Trefz, H Schmidt, G Hammersen, et al.
Wiener Klinische Wochenschrift|January 1, 1992
[Selective screening for amino and organic acid inborn errors]G F Hoffmann, F K Trefz, D Rating, et al.
European Journal of Pediatrics|November 1, 1989
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of GermanyU Lichter-Konecki, M Schlotter, F K Trefz, et al.
Human Genetics|August 1, 1991
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuriaD S Konecki, M Schlotter, F K Trefz, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 14, 1997
Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of lifeA P Pöge, F Autschbach, H Korall, et al.
European Journal of Pediatrics|July 1, 1996
German Maternal Phenylketonuria StudyS Cipcic-Schmidt, F K Trefz, B Fünders, et al.
Lancet (London, England)|August 18, 1990
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopyW Grodd, I Krägeloh-Mann, D Petersen, et al.
Pageof 7

Showing results (11-20 of 70) with videos related to

Sort By:
Pageof 7
Acta Vitaminologica Et Enzymologica|January 1, 1975
A study of urinary tryptophan metabolites in relation to the phenylalanine content of semi-synthetic diets in a patient with phenylketonuriaD J Byrd, W Kochen, L Schürrle, et al.
Journal of Inherited Metabolic Disease|October 29, 2008
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuriaF K Trefz, D Scheible, H Götz, et al.
Monographs in Human Genetics|January 1, 1978
In vivo determination of phenylalanine hydroxylase activity using heptadeutero-phenylalanine and comparison to the in vitro assay valuesF K Trefz, K Bartholomé, H Bickel, et al.
Monatsschrift Fur Kinderheilkunde|May 1, 1980
[Familial nesidioblastosis]F K Trefz, H Schmidt, G Hammersen, et al.
Wiener Klinische Wochenschrift|January 1, 1992
[Selective screening for amino and organic acid inborn errors]G F Hoffmann, F K Trefz, D Rating, et al.
European Journal of Pediatrics|November 1, 1989
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of GermanyU Lichter-Konecki, M Schlotter, F K Trefz, et al.
Human Genetics|August 1, 1991
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuriaD S Konecki, M Schlotter, F K Trefz, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 14, 1997
Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of lifeA P Pöge, F Autschbach, H Korall, et al.
European Journal of Pediatrics|July 1, 1996
German Maternal Phenylketonuria StudyS Cipcic-Schmidt, F K Trefz, B Fünders, et al.
Lancet (London, England)|August 18, 1990
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopyW Grodd, I Krägeloh-Mann, D Petersen, et al.
Pageof 7