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Pediatric Pulmonology
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April 28, 2015
Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany
Olaf Sommerburg, Jutta Hammermann, Martin Lindner, et al.
Clinical Chemistry
|
November 20, 2004
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts
Marina A Schwab, Stefan Kölker, Lambert P van den Heuvel, et al.
Annals of Hematology
|
December 15, 2015
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Joachim B Kunz, Saida Awad, Margit Happich, et al.
Der Nervenarzt
|
October 15, 2021
[Newborn screening program for spinal muscular atrophy]
Heike Kölbel, Katharina Vill, Oliver Schwartz, et al.
Clinical Biochemistry
|
October 6, 2022
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Péter Monostori, Markus Godejohann, Joachim Janda, et al.
Orphanet Journal of Rare Diseases
|
June 22, 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Martin Lindner, Gwendolyn Gramer, Gisela Haege, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 2, 2020
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)
Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze, et al.
The Journal of Pediatrics
|
December 26, 2006
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families
Katharina Mouchegh, Marie Zikánová, Georg F Hoffmann, et al.
Transplantation
|
March 20, 2009
One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects
Jochen Meyburg, Anibh M Das, Friederike Hoerster, et al.
Molecular Genetics and Metabolism
|
March 10, 2026
Transaldolase deficiency - natural disease course towards adulthood
Viktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
Page
of 39
Search research articles
Search
Showing results (211-220 of 381) with videos related to
Sort By:
Page
of 39
Pediatric Pulmonology
|
April 28, 2015
Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany
Olaf Sommerburg, Jutta Hammermann, Martin Lindner, et al.
Clinical Chemistry
|
November 20, 2004
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts
Marina A Schwab, Stefan Kölker, Lambert P van den Heuvel, et al.
Annals of Hematology
|
December 15, 2015
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Joachim B Kunz, Saida Awad, Margit Happich, et al.
Der Nervenarzt
|
October 15, 2021
[Newborn screening program for spinal muscular atrophy]
Heike Kölbel, Katharina Vill, Oliver Schwartz, et al.
Clinical Biochemistry
|
October 6, 2022
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Péter Monostori, Markus Godejohann, Joachim Janda, et al.
Orphanet Journal of Rare Diseases
|
June 22, 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Martin Lindner, Gwendolyn Gramer, Gisela Haege, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 2, 2020
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)
Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze, et al.
The Journal of Pediatrics
|
December 26, 2006
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families
Katharina Mouchegh, Marie Zikánová, Georg F Hoffmann, et al.
Transplantation
|
March 20, 2009
One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects
Jochen Meyburg, Anibh M Das, Friederike Hoerster, et al.
Molecular Genetics and Metabolism
|
March 10, 2026
Transaldolase deficiency - natural disease course towards adulthood
Viktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
Page
of 39