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Dorothea Haas

Showing results (21-30 of 63) with videos related to

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Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuriaSven F Garbade, Nan Shen, Nastassja Himmelreich, et al.
Molecular Genetics and Metabolism Reports|March 26, 2016
Successful intrauterine treatment of a patient with cobalamin C defectFriedrich K Trefz, Dagmar Scheible, Georg Frauendienst-Egger, et al.
Journal of Lipid Research|October 18, 2012
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patientsWei Liu, Libin Xu, Connor R Lamberson, et al.
Clinical Biochemistry|March 23, 2011
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor bindingSabine Weidensee, Peter Goettig, Marko Bertone, et al.
Science (New York, N.Y.)|September 15, 2018
Semisynthetic sensor proteins enable metabolic assays at the point of careQiuliyang Yu, Lin Xue, Julien Hiblot, et al.
Gene|January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSFDorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
European Journal of Pediatrics|March 16, 2022
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screeningUlrike Mütze, Uta Nennstiel, Birgit Odenwald, et al.
Pediatrics|February 4, 2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrumViola Prietsch, Ertan Mayatepek, Hermann Krastel, et al.
JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuriaSven F Garbade, Nan Shen, Nastassja Himmelreich, et al.
Molecular Genetics and Metabolism Reports|March 26, 2016
Successful intrauterine treatment of a patient with cobalamin C defectFriedrich K Trefz, Dagmar Scheible, Georg Frauendienst-Egger, et al.
Journal of Lipid Research|October 18, 2012
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patientsWei Liu, Libin Xu, Connor R Lamberson, et al.
Clinical Biochemistry|March 23, 2011
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor bindingSabine Weidensee, Peter Goettig, Marko Bertone, et al.
Science (New York, N.Y.)|September 15, 2018
Semisynthetic sensor proteins enable metabolic assays at the point of careQiuliyang Yu, Lin Xue, Julien Hiblot, et al.
Gene|January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSFDorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
European Journal of Pediatrics|March 16, 2022
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screeningUlrike Mütze, Uta Nennstiel, Birgit Odenwald, et al.
Pediatrics|February 4, 2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrumViola Prietsch, Ertan Mayatepek, Hermann Krastel, et al.
JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
Pageof 7