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Clinical Chemistry
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December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
C Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.
Annals of Clinical and Translational Neurology
|
August 31, 2019
Early prediction of phenotypic severity in Citrullinemia Type 1
Matthias Zielonka, Stefan Kölker, Florian Gleich, et al.
Clinical Chemistry
|
September 11, 1998
Biochemical hallmarks of tyrosine hydroxylase deficiency
C Bräutigam, R A Wevers, R J Jansen, et al.
BMC Genomics
|
July 11, 2013
Cytosine methylation is a conserved epigenetic feature found throughout the phylum Platyhelminthes
Kathrin K Geyer, Iain W Chalmers, Neil Mackintosh, et al.
Plos One
|
April 18, 2019
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis
Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2008
Tetrahydrobiopterin deficiency in human rabies
R E Willoughby, T Opladen, T Maier, et al.
Plos One
|
March 10, 2023
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Rafael Tesorero, Joachim Janda, Friederike Hörster, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis
Anna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, et al.
Scientific Reports
|
March 19, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders
Roland Posset, Friederike Epp, Sven F Garbade, et al.
Amino Acids
|
December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases
Katharina Küper, Gernot Poschet, Julia Rossmann, et al.
Page
of 108
Search research articles
Search
Showing results (681-690 of 1,073) with videos related to
Sort By:
Page
of 108
Clinical Chemistry
|
December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
C Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.
Annals of Clinical and Translational Neurology
|
August 31, 2019
Early prediction of phenotypic severity in Citrullinemia Type 1
Matthias Zielonka, Stefan Kölker, Florian Gleich, et al.
Clinical Chemistry
|
September 11, 1998
Biochemical hallmarks of tyrosine hydroxylase deficiency
C Bräutigam, R A Wevers, R J Jansen, et al.
BMC Genomics
|
July 11, 2013
Cytosine methylation is a conserved epigenetic feature found throughout the phylum Platyhelminthes
Kathrin K Geyer, Iain W Chalmers, Neil Mackintosh, et al.
Plos One
|
April 18, 2019
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis
Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2008
Tetrahydrobiopterin deficiency in human rabies
R E Willoughby, T Opladen, T Maier, et al.
Plos One
|
March 10, 2023
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Rafael Tesorero, Joachim Janda, Friederike Hörster, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis
Anna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, et al.
Scientific Reports
|
March 19, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders
Roland Posset, Friederike Epp, Sven F Garbade, et al.
Amino Acids
|
December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases
Katharina Küper, Gernot Poschet, Julia Rossmann, et al.
Page
of 108