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American Journal of Medical Genetics. Part A
|
December 7, 2013
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Anthony M Vandersteen, Allan M Lund, David J P Ferguson, et al.
Molecular Genetics and Metabolism Reports
|
April 16, 2020
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Dawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, et al.
Molecular Genetics and Metabolism
|
March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
Femke Molema, Florian Gleich, Peter Burgard, et al.
Molecular Genetics and Metabolism
|
October 23, 2012
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
Jessica de Ruijter, Minke H de Ru, Tom Wagemans, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
October 4, 2017
Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes
Nicolai J Wewer Albrechtsen, Anders E Junker, Mette Christensen, et al.
Scandinavian Journal of Clinical and Laboratory Investigation
|
October 18, 2017
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease
Lis Hasholt, Martin Ballegaard, Henning Bundgaard, et al.
Journal of Nutrition and Metabolism
|
March 8, 2018
Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels
Kirsten K Ahring, Allan M Lund, Erik Jensen, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 26, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
Anna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, et al.
The Lancet. Diabetes & Endocrinology
|
May 23, 2021
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
Ute Spiekerkoetter, Maria L Couce, Anibh M Das, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 78) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
December 7, 2013
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Anthony M Vandersteen, Allan M Lund, David J P Ferguson, et al.
Molecular Genetics and Metabolism Reports
|
April 16, 2020
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Dawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, et al.
Molecular Genetics and Metabolism
|
March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
Femke Molema, Florian Gleich, Peter Burgard, et al.
Molecular Genetics and Metabolism
|
October 23, 2012
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
Jessica de Ruijter, Minke H de Ru, Tom Wagemans, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
October 4, 2017
Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes
Nicolai J Wewer Albrechtsen, Anders E Junker, Mette Christensen, et al.
Scandinavian Journal of Clinical and Laboratory Investigation
|
October 18, 2017
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease
Lis Hasholt, Martin Ballegaard, Henning Bundgaard, et al.
Journal of Nutrition and Metabolism
|
March 8, 2018
Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels
Kirsten K Ahring, Allan M Lund, Erik Jensen, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 26, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
Anna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, et al.
The Lancet. Diabetes & Endocrinology
|
May 23, 2021
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
Ute Spiekerkoetter, Maria L Couce, Anibh M Das, et al.
Page
of 8