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Journal of Inherited Metabolic Disease
|
December 9, 2020
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Viktor Kožich, Jitka Sokolová, Andrew A M Morris, et al.
Molecular Genetics and Metabolism
|
September 19, 2024
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders
Matthias Zielonka, Stefan Kölker, Sven F Garbade, et al.
Molecular Genetics and Metabolism
|
February 1, 2024
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Ulrike Mütze, Sven F Garbade, Florian Gleich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
Roland Posset, Stefan Kölker, Florian Gleich, et al.
Annals of Clinical and Translational Neurology
|
October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Svenja Scharre, Roland Posset, Sven F Garbade, et al.
Nutrients
|
August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Elena Schnabel, Stefan Kölker, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Journal of Inherited Metabolic Disease
|
August 14, 2020
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set
Florin Bösch, Markus A Landolt, Matthias R Baumgartner, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
December 9, 2020
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Viktor Kožich, Jitka Sokolová, Andrew A M Morris, et al.
Molecular Genetics and Metabolism
|
September 19, 2024
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders
Matthias Zielonka, Stefan Kölker, Sven F Garbade, et al.
Molecular Genetics and Metabolism
|
February 1, 2024
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Ulrike Mütze, Sven F Garbade, Florian Gleich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Roland Posset, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
Roland Posset, Stefan Kölker, Florian Gleich, et al.
Annals of Clinical and Translational Neurology
|
October 11, 2022
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Svenja Scharre, Roland Posset, Sven F Garbade, et al.
Nutrients
|
August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Elena Schnabel, Stefan Kölker, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Journal of Inherited Metabolic Disease
|
August 14, 2020
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set
Florin Bösch, Markus A Landolt, Matthias R Baumgartner, et al.
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of 5