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European Journal of Pediatrics
|
June 1, 1994
Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe
C Bender, A Büchler, R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
KBS-DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolism
U Mischke, G Fraudendienst-Egger, P Matthis, et al.
American Journal of Medical Genetics
|
April 11, 2000
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
U A Mau, C Backsch, H Schaudt, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
July 1, 1990
[Pre- and postnatal diagnosis of organoacidopathies]
G F Hoffmann, C Jakobs, D Rating, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 17, 1979
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography
F K Trefz, T Erlenmaier, D H Hunneman, et al.
HNO
|
April 7, 2007
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]
S Brosch, A Rauffeisen, M Baur, et al.
Acta Paediatrica Japonica : Overseas Edition
|
August 1, 1988
PKU and NON-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results
F K Trefz, U Lichter-Konecki, D S Konecki, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 1, 1976
Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry
F K Trefz, D J Byrd, M E Blaskovics, et al.
Klinische Padiatrie
|
March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]
R Voll, G F Hoffmann, C G Lipinski, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1981
In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants
F K Trefz, K Bartholomé, H Bickel, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 70) with videos related to
Sort By:
Page
of 7
European Journal of Pediatrics
|
June 1, 1994
Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe
C Bender, A Büchler, R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
KBS-DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolism
U Mischke, G Fraudendienst-Egger, P Matthis, et al.
American Journal of Medical Genetics
|
April 11, 2000
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
U A Mau, C Backsch, H Schaudt, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
July 1, 1990
[Pre- and postnatal diagnosis of organoacidopathies]
G F Hoffmann, C Jakobs, D Rating, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 17, 1979
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography
F K Trefz, T Erlenmaier, D H Hunneman, et al.
HNO
|
April 7, 2007
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]
S Brosch, A Rauffeisen, M Baur, et al.
Acta Paediatrica Japonica : Overseas Edition
|
August 1, 1988
PKU and NON-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results
F K Trefz, U Lichter-Konecki, D S Konecki, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 1, 1976
Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry
F K Trefz, D J Byrd, M E Blaskovics, et al.
Klinische Padiatrie
|
March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]
R Voll, G F Hoffmann, C G Lipinski, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1981
In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants
F K Trefz, K Bartholomé, H Bickel, et al.
Page
of 7