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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.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
Annemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Sarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
International Journal of Molecular Sciences
|
May 13, 2023
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
Rowida Almomani, Maurice Sopacua, Margherita Marchi, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Cell
|
March 25, 2017
Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging
Marjolein P Baar, Renata M C Brandt, Diana A Putavet, et al.
Circulation. Arrhythmia and Electrophysiology
|
September 30, 2020
Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients With Idiopathic Dilated Cardiomyopathy
Job A J Verdonschot, Jort J Merken, Antonius M W van Stipdonk, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
NPJ Genomic Medicine
|
November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
R Koster, R D Brandão, D Tserpelis, et al.
Page
of 17
Search research articles
Search
Showing results (151-160 of 167) with videos related to
Sort By:
Page
of 17
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.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
Annemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Sarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
International Journal of Molecular Sciences
|
May 13, 2023
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
Rowida Almomani, Maurice Sopacua, Margherita Marchi, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Cell
|
March 25, 2017
Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging
Marjolein P Baar, Renata M C Brandt, Diana A Putavet, et al.
Circulation. Arrhythmia and Electrophysiology
|
September 30, 2020
Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients With Idiopathic Dilated Cardiomyopathy
Job A J Verdonschot, Jort J Merken, Antonius M W van Stipdonk, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
NPJ Genomic Medicine
|
November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
R Koster, R D Brandão, D Tserpelis, et al.
Page
of 17