Search research articles
Contact Us
Filters
Showing results (51-60 of 79) with videos related to
Page
of 8
Sort By:
Scientific Reports
|
October 20, 2018
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
Monique Williams, Alberto Burlina, Laura Rubert, et al.
European Journal of Human Genetics : EJHG
|
June 23, 2016
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Rachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Willemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
Emmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
Journal of the American Heart Association
|
September 3, 2022
Mouse Model of Heart Failure With Preserved Ejection Fraction Driven by Hyperlipidemia and Enhanced Cardiac Low-Density Lipoprotein Receptor Expression
Monique Williams, Jose Manuel Condor Capcha, Camila Iansen Irion, et al.
Seizure
|
January 23, 2017
Ketogenic diet therapy for epilepsy during pregnancy: A case series
Elles J T M van der Louw, Tanya J Williams, Bobbie J Henry-Barron, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.
Journal for Immunotherapy of Cancer
|
February 28, 2025
T-cell immune checkpoint inhibition plus hypomethylation for locally advanced HER2-negative breast cancer: a phase 2 neoadjuvant window trial of decitabine and pembrolizumab followed by standard neoadjuvant chemotherapy
Harry D Bear, Xiaoyan Deng, Dipankar Bandyopadhyay, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 79) with videos related to
Sort By:
Page
of 8
Scientific Reports
|
October 20, 2018
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
Monique Williams, Alberto Burlina, Laura Rubert, et al.
European Journal of Human Genetics : EJHG
|
June 23, 2016
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Rachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Willemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
Emmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
Journal of the American Heart Association
|
September 3, 2022
Mouse Model of Heart Failure With Preserved Ejection Fraction Driven by Hyperlipidemia and Enhanced Cardiac Low-Density Lipoprotein Receptor Expression
Monique Williams, Jose Manuel Condor Capcha, Camila Iansen Irion, et al.
Seizure
|
January 23, 2017
Ketogenic diet therapy for epilepsy during pregnancy: A case series
Elles J T M van der Louw, Tanya J Williams, Bobbie J Henry-Barron, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.
Journal for Immunotherapy of Cancer
|
February 28, 2025
T-cell immune checkpoint inhibition plus hypomethylation for locally advanced HER2-negative breast cancer: a phase 2 neoadjuvant window trial of decitabine and pembrolizumab followed by standard neoadjuvant chemotherapy
Harry D Bear, Xiaoyan Deng, Dipankar Bandyopadhyay, et al.
Page
of 8