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Georg F Hoffmann

Showing results (61-70 of 381) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Neurology|January 1, 2017
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type BVincenzo Leuzzi, Mario Mastrangelo, Maria Teresa Giannini, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programsNicola Dikow, Beate Ditzen, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|January 30, 2019
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional studyTomáš Sláma, Sven F Garbade, Stefan Kölker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorderMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|July 30, 2010
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff valuesThomas Opladen, Jürgen G Okun, Peter Burgard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2017
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease featuresMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|May 6, 2016
Qualitative urinary organic acid analysis: 10 years of quality assuranceVerena Peters, James R Bonham, Georg F Hoffmann, et al.
Journal of Inherited Metabolic Disease|June 26, 2013
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemiaTamaris Zwickler, Alina Riderer, Gisela Haege, et al.
Orphanet Journal of Rare Diseases|October 19, 2013
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysisJohannes Pfeil, Stefan Listl, Georg F Hoffmann, et al.
Pageof 39

Showing results (61-70 of 381) with videos related to

Sort By:
Pageof 39
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Neurology|January 1, 2017
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type BVincenzo Leuzzi, Mario Mastrangelo, Maria Teresa Giannini, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 5, 2024
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programsNicola Dikow, Beate Ditzen, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|January 30, 2019
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional studyTomáš Sláma, Sven F Garbade, Stefan Kölker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorderMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|July 30, 2010
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff valuesThomas Opladen, Jürgen G Okun, Peter Burgard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2017
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease featuresMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Journal of Inherited Metabolic Disease|May 6, 2016
Qualitative urinary organic acid analysis: 10 years of quality assuranceVerena Peters, James R Bonham, Georg F Hoffmann, et al.
Journal of Inherited Metabolic Disease|June 26, 2013
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemiaTamaris Zwickler, Alina Riderer, Gisela Haege, et al.
Orphanet Journal of Rare Diseases|October 19, 2013
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysisJohannes Pfeil, Stefan Listl, Georg F Hoffmann, et al.
Pageof 39