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Pediatrics
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June 5, 2003
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
Andreas Schulze, Martin Lindner, Dirk Kohlmüller, et al.
Molecular Genetics and Metabolism
|
January 25, 2016
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Nan Shen, Caroline Heintz, Christian Thiel, et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids
|
June 9, 2016
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria
Gwendolyn Gramer, Gisela Haege, Claus-Dieter Langhans, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2017
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
Katrin Hinderhofer, Konstantin Mechler, Georg F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2023
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders
Roland Posset, Matthias Zielonka, Florian Gleich, et al.
Pediatric Neurology
|
September 6, 2002
L-alanine supplementation in late infantile glycogen storage disease type II
Olaf A Bodamer, Dorothea Haas, Monique M Hermans, et al.
Molecular Genetics and Metabolism
|
July 25, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
Nastassja Himmelreich, Nan Shen, Jürgen G Okun, et al.
Journal of Inherited Metabolic Disease
|
March 19, 2011
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience
Thomas Opladen, Bettina Abu Seda, Anahita Rassi, et al.
Circulation
|
January 12, 2011
Determinants of blood pressure in preschool children: the role of parental smoking
Giacomo D Simonetti, Rainer Schwertz, Martin Klett, et al.
Journal of Inherited Metabolic Disease
|
August 17, 2013
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life
Gwendolyn Gramer, Gisela Haege, Esther M Glahn, et al.
Page
of 39
Search research articles
Search
Showing results (71-80 of 381) with videos related to
Sort By:
Page
of 39
Pediatrics
|
June 5, 2003
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
Andreas Schulze, Martin Lindner, Dirk Kohlmüller, et al.
Molecular Genetics and Metabolism
|
January 25, 2016
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
Nan Shen, Caroline Heintz, Christian Thiel, et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids
|
June 9, 2016
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria
Gwendolyn Gramer, Gisela Haege, Claus-Dieter Langhans, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2017
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
Katrin Hinderhofer, Konstantin Mechler, Georg F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2023
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders
Roland Posset, Matthias Zielonka, Florian Gleich, et al.
Pediatric Neurology
|
September 6, 2002
L-alanine supplementation in late infantile glycogen storage disease type II
Olaf A Bodamer, Dorothea Haas, Monique M Hermans, et al.
Molecular Genetics and Metabolism
|
July 25, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
Nastassja Himmelreich, Nan Shen, Jürgen G Okun, et al.
Journal of Inherited Metabolic Disease
|
March 19, 2011
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience
Thomas Opladen, Bettina Abu Seda, Anahita Rassi, et al.
Circulation
|
January 12, 2011
Determinants of blood pressure in preschool children: the role of parental smoking
Giacomo D Simonetti, Rainer Schwertz, Martin Klett, et al.
Journal of Inherited Metabolic Disease
|
August 17, 2013
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life
Gwendolyn Gramer, Gisela Haege, Esther M Glahn, et al.
Page
of 39