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Orphanet Journal of Rare Diseases
|
May 31, 2012
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle, Nathalie Boddaert, Alberto Burlina, et al.
European Journal of Medical Genetics
|
August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, Alberto Burlina, Anupam Chakrapani, et al.
Molecular Genetics and Metabolism Reports
|
June 28, 2022
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
Florin Bösch, Markus A Landolt, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2025
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
Nina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, et al.
Therapeutic Advances in Chronic Disease
|
May 20, 2020
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle
Miriam Michel, Karl-Otto Dubowy, Manuela Zlamy, et al.
Npj Metabolic Health and Disease
|
May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
Gabriella Allegri, Martin Poms, Nadia Zürcher, et al.
The Lancet. Diabetes & Endocrinology
|
August 27, 2017
Issues with European guidelines for phenylketonuria
Peter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Martina Huemer, Daniel R Carvalho, Jaime M Brum, et al.
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of 13
Search research articles
Search
Showing results (81-90 of 129) with videos related to
Sort By:
Page
of 13
Orphanet Journal of Rare Diseases
|
May 31, 2012
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle, Nathalie Boddaert, Alberto Burlina, et al.
European Journal of Medical Genetics
|
August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, Alberto Burlina, Anupam Chakrapani, et al.
Molecular Genetics and Metabolism Reports
|
June 28, 2022
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
Florin Bösch, Markus A Landolt, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2025
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, et al.
Orphanet Journal of Rare Diseases
|
November 10, 2019
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
Nina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, et al.
Therapeutic Advances in Chronic Disease
|
May 20, 2020
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle
Miriam Michel, Karl-Otto Dubowy, Manuela Zlamy, et al.
Npj Metabolic Health and Disease
|
May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
Gabriella Allegri, Martin Poms, Nadia Zürcher, et al.
The Lancet. Diabetes & Endocrinology
|
August 27, 2017
Issues with European guidelines for phenylketonuria
Peter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Martina Huemer, Daniel R Carvalho, Jaime M Brum, et al.
Page
of 13