Search research articles
Contact Us
Filters
Showing results (41-50 of 79) with videos related to
Page
of 8
Sort By:
JIMD Reports
|
February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature
Femke Molema, Monique Williams, Janneke Langendonk, 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.
Metabolites
|
November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform
Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.
Molecular Genetics & Genomic Medicine
|
April 1, 2017
A novel <i>de novo</i> frameshift deletion in <i>EHMT1</i> in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation
Patrick R Blackburn, Monique Williams, Margot A Cousin, 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 Cancer Research : MCR
|
April 27, 2017
Combined AURKA and H3K9 Methyltransferase Targeting Inhibits Cell Growth By Inducing Mitotic Catastrophe
Angela Mathison, Ann Salmonson, Mckenna Missfeldt, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
Journal of Inherited Metabolic Disease
|
September 16, 2011
A series of pregnancies in women with inherited metabolic disease
Janneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
International Journal of Molecular Sciences
|
June 24, 2022
<i>Col4a3</i> Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 Backgrounds
Camila I Irion, Monique Williams, Jose Condor Capcha, et al.
Page
of 8
Search research articles
Search
Showing results (41-50 of 79) with videos related to
Sort By:
Page
of 8
JIMD Reports
|
February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature
Femke Molema, Monique Williams, Janneke Langendonk, 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.
Metabolites
|
November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform
Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.
Molecular Genetics & Genomic Medicine
|
April 1, 2017
A novel <i>de novo</i> frameshift deletion in <i>EHMT1</i> in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation
Patrick R Blackburn, Monique Williams, Margot A Cousin, 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 Cancer Research : MCR
|
April 27, 2017
Combined AURKA and H3K9 Methyltransferase Targeting Inhibits Cell Growth By Inducing Mitotic Catastrophe
Angela Mathison, Ann Salmonson, Mckenna Missfeldt, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
Journal of Inherited Metabolic Disease
|
September 16, 2011
A series of pregnancies in women with inherited metabolic disease
Janneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
International Journal of Molecular Sciences
|
June 24, 2022
<i>Col4a3</i> Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 Backgrounds
Camila I Irion, Monique Williams, Jose Condor Capcha, et al.
Page
of 8