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Clinical Chemistry
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July 26, 2003
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency
Jojanneke H J Huck, Eduard A Struys, Nanda M Verhoeven, et al.
Journal of Inherited Metabolic Disease
|
May 24, 2019
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
Hanneke A Haijes, Judith J M Jans, Simone Y Tas, et al.
JAMA Neurology
|
December 11, 2013
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
Eugene F Diekman, Tom J de Koning, Nanda M Verhoeven-Duif, et al.
Journal of Veterinary Internal Medicine
|
August 2, 2003
L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers
Carley J Abramson, Simon R Platt, Cornelis Jakobs, et al.
Human Molecular Genetics
|
July 2, 2019
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster
Wanhao Chi, Atulya S R Iyengar, Monique Albersen, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2012
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Maria Veiga-da-Cunha, Nanda M Verhoeven-Duif, Tom J de Koning, et al.
American Journal of Human Genetics
|
February 28, 2004
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy
Jojanneke H J Huck, Nanda M Verhoeven, Eduard A Struys, et al.
Journal of Inherited Metabolic Disease
|
October 12, 2019
Inborn errors of enzymes in glutamate metabolism
Lynne Rumping, Esmee Vringer, Roderick H J Houwen, et al.
Metabolites
|
December 22, 2023
Metabolic Alterations in NADSYN1-Deficient Cells
Nils W F Meijer, Johan Gerrits, Susan Zwakenberg, et al.
Journal of Chromatography. A
|
September 6, 2011
A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids
Wouter F Visser, Nanda M Verhoeven-Duif, Roel Ophoff, et al.
Page
of 11
Search research articles
Search
Showing results (11-20 of 107) with videos related to
Sort By:
Page
of 11
Clinical Chemistry
|
July 26, 2003
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency
Jojanneke H J Huck, Eduard A Struys, Nanda M Verhoeven, et al.
Journal of Inherited Metabolic Disease
|
May 24, 2019
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
Hanneke A Haijes, Judith J M Jans, Simone Y Tas, et al.
JAMA Neurology
|
December 11, 2013
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
Eugene F Diekman, Tom J de Koning, Nanda M Verhoeven-Duif, et al.
Journal of Veterinary Internal Medicine
|
August 2, 2003
L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers
Carley J Abramson, Simon R Platt, Cornelis Jakobs, et al.
Human Molecular Genetics
|
July 2, 2019
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster
Wanhao Chi, Atulya S R Iyengar, Monique Albersen, et al.
Journal of Inherited Metabolic Disease
|
December 18, 2012
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Maria Veiga-da-Cunha, Nanda M Verhoeven-Duif, Tom J de Koning, et al.
American Journal of Human Genetics
|
February 28, 2004
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy
Jojanneke H J Huck, Nanda M Verhoeven, Eduard A Struys, et al.
Journal of Inherited Metabolic Disease
|
October 12, 2019
Inborn errors of enzymes in glutamate metabolism
Lynne Rumping, Esmee Vringer, Roderick H J Houwen, et al.
Metabolites
|
December 22, 2023
Metabolic Alterations in NADSYN1-Deficient Cells
Nils W F Meijer, Johan Gerrits, Susan Zwakenberg, et al.
Journal of Chromatography. A
|
September 6, 2011
A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids
Wouter F Visser, Nanda M Verhoeven-Duif, Roel Ophoff, et al.
Page
of 11