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World Journal of Gastroenterology
|
March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defects
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Clinical Chemistry
|
April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
Susen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.
The Journal of Clinical Investigation
|
March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
Bengt Hansske, Christian Thiel, Torben Lübke, et al.
Molecular Genetics and Metabolism
|
April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Arthritis and Rheumatism
|
June 10, 2004
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa
Silvia Stojanov, Peter Lohse, Pia Lohse, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
November 12, 2021
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net
Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters
Nikolas Boy, Gisela Haege, Jana Heringer, et al.
International Journal of Molecular Sciences
|
May 27, 2026
Interpretation of Pharmacometabolomics Results: Fingerprint of Drug Exposure or Confounder Effects? Insights from a Urinary Metabolomics Study with Voriconazole in Healthy Participants
Kristine Chobanyan-Jürgens, Amin Muhareb, Moritz Niesert, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 23, 2007
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3)
Björn Tackenberg, Aline Metz, Marcus Unger, et al.
Page
of 39
Search research articles
Search
Showing results (201-210 of 381) with videos related to
Sort By:
Page
of 39
World Journal of Gastroenterology
|
March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defects
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Clinical Chemistry
|
April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
Susen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.
The Journal of Clinical Investigation
|
March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
Bengt Hansske, Christian Thiel, Torben Lübke, et al.
Molecular Genetics and Metabolism
|
April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Arthritis and Rheumatism
|
June 10, 2004
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa
Silvia Stojanov, Peter Lohse, Pia Lohse, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
November 12, 2021
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net
Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters
Nikolas Boy, Gisela Haege, Jana Heringer, et al.
International Journal of Molecular Sciences
|
May 27, 2026
Interpretation of Pharmacometabolomics Results: Fingerprint of Drug Exposure or Confounder Effects? Insights from a Urinary Metabolomics Study with Voriconazole in Healthy Participants
Kristine Chobanyan-Jürgens, Amin Muhareb, Moritz Niesert, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 23, 2007
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3)
Björn Tackenberg, Aline Metz, Marcus Unger, et al.
Page
of 39