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Dorothea Haas

Showing results (31-40 of 63) with videos related to

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Pediatrics|July 23, 2024
Vitamin B12 Deficiency Newborn ScreeningUlrike Mütze, Florian Gleich, Dorothea Haas, et al.
Plos One|March 1, 2019
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validationPéter Monostori, Glynis Klinke, Jana Hauke, et al.
Metabolites|October 22, 2021
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This ObservationDorothea Haas, Jana Hauke, Kathrin V Schwarz, et al.
Frontiers in Genetics|June 7, 2021
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked <i>MBTPS2</i> Osteogenesis ImperfectaPei Jin Lim, Severin Marfurt, Uschi Lindert, et al.
World Journal of Gastroenterology|March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defectsDorothea 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 spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, 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 versaSilvia Stojanov, Peter Lohse, Pia Lohse, et al.
Stem Cell Research|April 9, 2022
Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS geneArcangela Iuso, Fangfang Zhang, Ejona Rusha, et al.
Molecular Genetics and Metabolism|March 27, 2024
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patientsFriedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, et al.
Pediatric Research|September 27, 2005
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disordersAndrea Schulze-Bergkamen, Jürgen G Okun, Ute Spiekerkötter, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
Pediatrics|July 23, 2024
Vitamin B12 Deficiency Newborn ScreeningUlrike Mütze, Florian Gleich, Dorothea Haas, et al.
Plos One|March 1, 2019
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validationPéter Monostori, Glynis Klinke, Jana Hauke, et al.
Metabolites|October 22, 2021
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This ObservationDorothea Haas, Jana Hauke, Kathrin V Schwarz, et al.
Frontiers in Genetics|June 7, 2021
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked <i>MBTPS2</i> Osteogenesis ImperfectaPei Jin Lim, Severin Marfurt, Uschi Lindert, et al.
World Journal of Gastroenterology|March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defectsDorothea 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 spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, 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 versaSilvia Stojanov, Peter Lohse, Pia Lohse, et al.
Stem Cell Research|April 9, 2022
Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS geneArcangela Iuso, Fangfang Zhang, Ejona Rusha, et al.
Molecular Genetics and Metabolism|March 27, 2024
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patientsFriedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, et al.
Pediatric Research|September 27, 2005
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disordersAndrea Schulze-Bergkamen, Jürgen G Okun, Ute Spiekerkötter, et al.
Pageof 7