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Journal of Inherited Metabolic Disease
|
February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Human Mutation
|
January 20, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Marisa I Mendes, Desirée Ec Smith, Ana Pop, et al.
Human Mutation
|
January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene
Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
JIMD Reports
|
July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Kevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
International Journal of Neonatal Screening
|
January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
Yannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
Cancers
|
November 27, 2025
Design and Interim Recruitment Outcomes of a Multi-Modal, Multi-Level Patient Navigation Intervention for Lung Cancer Screening in the Southeast U.S
Marvella E Ford, Louise Henderson, Alison Brenner, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A Struys, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Human Mutation
|
January 20, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Marisa I Mendes, Desirée Ec Smith, Ana Pop, et al.
Human Mutation
|
January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene
Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
JIMD Reports
|
July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Kevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
International Journal of Neonatal Screening
|
January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
Yannay Khaikin, Sarah Sidky, Jose Abdenur, et al.
Cancers
|
November 27, 2025
Design and Interim Recruitment Outcomes of a Multi-Modal, Multi-Level Patient Navigation Intervention for Lung Cancer Screening in the Southeast U.S
Marvella E Ford, Louise Henderson, Alison Brenner, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A Struys, et al.
Page
of 8