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International Journal of Neonatal Screening
|
December 27, 2024
Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening
Céline Renoux, Estelle Roland, Séverine Ruet, et al.
Neurology
|
March 26, 2024
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<i>SLC6A8</i>)
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, et al.
American Journal of Human Genetics
|
June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylation
François Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
International Journal of Neonatal Screening
|
June 1, 2022
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Jaka Sikonja, Urh Groselj, Maurizio Scarpa, et al.
Molecular Nutrition & Food Research
|
January 11, 2019
Milk Polar Lipids in a High-Fat Diet Can Prevent Body Weight Gain: Modulated Abundance of Gut Bacteria in Relation with Fecal Loss of Specific Fatty Acids
Marine Milard, Fabienne Laugerette, Annie Durand, et al.
Brain : a Journal of Neurology
|
January 9, 2015
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
Carla Martins, Helena Hůlková, Larbi Dridi, et al.
Journal of Clinical Immunology
|
September 26, 2018
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)
Marie A P Audrain, Alexandra J C Léger, Caroline A F Hémont, 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.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Cell
|
May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 74) with videos related to
Sort By:
Page
of 8
International Journal of Neonatal Screening
|
December 27, 2024
Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening
Céline Renoux, Estelle Roland, Séverine Ruet, et al.
Neurology
|
March 26, 2024
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<i>SLC6A8</i>)
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, et al.
American Journal of Human Genetics
|
June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylation
François Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
International Journal of Neonatal Screening
|
June 1, 2022
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Jaka Sikonja, Urh Groselj, Maurizio Scarpa, et al.
Molecular Nutrition & Food Research
|
January 11, 2019
Milk Polar Lipids in a High-Fat Diet Can Prevent Body Weight Gain: Modulated Abundance of Gut Bacteria in Relation with Fecal Loss of Specific Fatty Acids
Marine Milard, Fabienne Laugerette, Annie Durand, et al.
Brain : a Journal of Neurology
|
January 9, 2015
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
Carla Martins, Helena Hůlková, Larbi Dridi, et al.
Journal of Clinical Immunology
|
September 26, 2018
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)
Marie A P Audrain, Alexandra J C Léger, Caroline A F Hémont, 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.
Journal of Inherited Metabolic Disease
|
February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Aline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Cell
|
May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Page
of 8