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Journal of Inherited Metabolic Disease
|
May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.
Pediatric Research
|
July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
Christina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Journal of Inherited Metabolic Disease
|
December 23, 2015
Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2018
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, 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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
Paulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD
Cecilie S Videbaek, Danielle Hj Kim, Hannah S Hart, et al.
Plos One
|
November 16, 2022
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, et al.
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Search research articles
Search
Showing results (51-60 of 78) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.
Pediatric Research
|
July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
Christina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Journal of Inherited Metabolic Disease
|
December 23, 2015
Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2018
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, 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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
Paulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD
Cecilie S Videbaek, Danielle Hj Kim, Hannah S Hart, et al.
Plos One
|
November 16, 2022
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, et al.
Page
of 8