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February 6, 2023
Progression from suspected to definite systemic sclerosis and the role of anti-topoisomerase I antibodies
Sophie I E Liem, Sam Neppelenbroek, Cynthia M Fehres, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2018
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
Irene M L W Körver-Keularts, Ping Wang, Huub W A H Waterval, et al.
The Journal of Clinical Endocrinology and Metabolism
|
December 9, 2014
Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features
Evelien E J W Smeets, Paul N Span, Antonius E van Herwaarden, et al.
Metabolites
|
November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
Melanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
Plos Genetics
|
July 9, 2020
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP
Flora Szeri, Stefan Lundkvist, Sylvia Donnelly, et al.
Pediatric Research
|
June 27, 2002
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recovery
Anne-Marie Van Cappellen Van Walsum, Henk W Jongsma, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, et al.
Neurology
|
May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
N I Wolf, M A A P Willemsen, U F Engelke, et al.
Journal of the American Chemical Society
|
September 11, 2025
Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic Composition
Thom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
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Search research articles
Search
Showing results (361-370 of 543) with videos related to
Sort By:
Page
of 55
RMD Open
|
February 6, 2023
Progression from suspected to definite systemic sclerosis and the role of anti-topoisomerase I antibodies
Sophie I E Liem, Sam Neppelenbroek, Cynthia M Fehres, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2018
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
Irene M L W Körver-Keularts, Ping Wang, Huub W A H Waterval, et al.
The Journal of Clinical Endocrinology and Metabolism
|
December 9, 2014
Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features
Evelien E J W Smeets, Paul N Span, Antonius E van Herwaarden, et al.
Metabolites
|
November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
Melanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
Plos Genetics
|
July 9, 2020
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP
Flora Szeri, Stefan Lundkvist, Sylvia Donnelly, et al.
Pediatric Research
|
June 27, 2002
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recovery
Anne-Marie Van Cappellen Van Walsum, Henk W Jongsma, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, et al.
Neurology
|
May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
N I Wolf, M A A P Willemsen, U F Engelke, et al.
Journal of the American Chemical Society
|
September 11, 2025
Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic Composition
Thom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Page
of 55