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International Journal of Neonatal Screening
|
August 27, 2021
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, et al.
JIMD Reports
|
February 23, 2013
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
Luise Borch, Allan Meldgaard Lund, Flemming Wibrand, et al.
European Journal of Pediatrics
|
November 27, 2007
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J Edmond Wraith, Maurizio Scarpa, Michael Beck, et al.
Orphanet Journal of Rare Diseases
|
June 7, 2015
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al.
Molecular Genetics and Metabolism
|
May 1, 2012
MCAD deficiency in Denmark
Brage Storstein Andresen, Allan Meldgaard Lund, David Michael Hougaard, et al.
Molecular Genetics and Metabolism
|
July 17, 2012
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening
Allan Meldgaard Lund, David Michael Hougaard, Henrik Simonsen, 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.
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
|
June 24, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis
Robert Šáhó, Renata Formánková, Julie B Eisengart, et al.
Human Mutation
|
January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
Marjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.
Page
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Search research articles
Search
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.
International Journal of Neonatal Screening
|
August 27, 2021
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, et al.
JIMD Reports
|
February 23, 2013
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
Luise Borch, Allan Meldgaard Lund, Flemming Wibrand, et al.
European Journal of Pediatrics
|
November 27, 2007
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J Edmond Wraith, Maurizio Scarpa, Michael Beck, et al.
Orphanet Journal of Rare Diseases
|
June 7, 2015
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al.
Molecular Genetics and Metabolism
|
May 1, 2012
MCAD deficiency in Denmark
Brage Storstein Andresen, Allan Meldgaard Lund, David Michael Hougaard, et al.
Molecular Genetics and Metabolism
|
July 17, 2012
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening
Allan Meldgaard Lund, David Michael Hougaard, Henrik Simonsen, 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.
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
|
June 24, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis
Robert Šáhó, Renata Formánková, Julie B Eisengart, et al.
Human Mutation
|
January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
Marjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.
Page
of 5