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Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Ulrike Mütze, Florian Gleich, Ivo Barić, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
Mathilde Yverneau, Stéphanie Leroux, Apolline Imbard, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Journal of Inherited Metabolic Disease
|
September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Karina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practice
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
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of 5
Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Ulrike Mütze, Florian Gleich, Ivo Barić, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
Mathilde Yverneau, Stéphanie Leroux, Apolline Imbard, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2022
Postauthorization safety study of betaine anhydrous
Ulrike Mütze, Florian Gleich, Sven F Garbade, et al.
Journal of Inherited Metabolic Disease
|
September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Karina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practice
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
Page
of 5