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Haijes-Siepel, Hanneke A.
15  results:
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1

Timing of cerebral damage in molybdenum cofactor deficiency..:

Ferreira, Elise A. ; Hofstede, Floris C. ; Haijes-Siepel, Hanneke A....
Genetics in Medicine Open.  2 (2024)  - p. 101853 , 2024
Link: https://doi.org/10.1016/..
 
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2

Important insights from discrete details : Gaining insight ..:

Haijes-Siepel, Hanneke Albertine
https://dspace.library.uu.nl/handle/1874/396692.  , 2020
Link: https://dspace.library.u..
 
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3

Beyond nephronophthisis: Retinal dystrophy in the absence o..:

Veldman, Bram C. F. ; Kuper, Willemijn F. E. ; Lilien, Marc...
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2204-2210 , 2021
Link: https://doi.org/10.1002/..
 
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4

Untargeted Metabolomics for Metabolic Diagnostic Screening ..:

Haijes, Hanneke A. ; van der Ham, Maria ; Prinsen, Hubertus C.M.T....
International Journal of Molecular Sciences.  21 (2020)  3 - p. 979 , 2020
Link: https://doi.org/10.3390/..
 
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5

Cross-Omics: Integrating Genomics with Metabolomics in Clin..:

Kerkhofs, Marten H. P. M. ; Haijes, Hanneke A. ; Willemsen, A. Marcel...
Metabolites.  10 (2020)  5 - p. 206 , 2020
Link: https://doi.org/10.3390/..
 
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6

Hypothesis: determining phenotypic specificity facilitates ..:

Haijes, Hanneke A. ; Jaeken, Jaak ; van Hasselt, Peter M.
Journal of Inherited Metabolic Disease.  43 (2020)  4 - p. 701-711 , 2020
Link: https://doi.org/10.1002/..
 
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7

Direct Infusion Based Metabolomics Identifies Metabolic Dis..:

Haijes, Hanneke A. ; Willemsen, Marcel ; Van der Ham, Maria...
Metabolites.  9 (2019)  1 - p. 12 , 2019
Link: https://doi.org/10.3390/..
 
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8

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congen..:

Haijes, Hanneke A. ; de Sain-van der Velden, Monique G.M. ; Prinsen, Hubertus C.M.T....
Molecular Genetics and Metabolism.  127 (2019)  4 - p. 368-372 , 2019
Link: https://doi.org/10.1016/..
 
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9

Pathophysiology of propionic and methylmalonic acidemias. P..:

Haijes, Hanneke A. ; van Hasselt, Peter M. ; Jans, Judith J. M..
Journal of Inherited Metabolic Disease.  42 (2019)  5 - p. 745-761 , 2019
Link: https://doi.org/10.1002/..
 
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10

Assessing the Pre-Analytical Stability of Small-Molecule Me..:

Haijes, Hanneke A. ; Willemse, Eline A.J. ; Gerrits, Johan...
Metabolites.  9 (2019)  10 - p. 236 , 2019
Link: https://doi.org/10.3390/..
 
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11

Retrospective evaluation of the Dutch pre‐newborn screening..:

Haijes, Hanneke A. ; Molema, Femke ; Langeveld, Mirjam...
Journal of Inherited Metabolic Disease.  43 (2019)  3 - p. 424-437 , 2019
Link: https://doi.org/10.1002/..
 
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12

Pathophysiology of propionic and methylmalonic acidemias. P..:

Haijes, Hanneke A. ; Jans, Judith J. M. ; Tas, Simone Y...
Journal of Inherited Metabolic Disease.  42 (2019)  5 - p. 730-744 , 2019
Link: https://doi.org/10.1002/..
 
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13

Direct-infusion based metabolomics unveils biochemical prof..:

Haijes, Hanneke A. ; van der Ham, Maria ; Gerrits, Johan...
Molecular Genetics and Metabolism.  127 (2019)  1 - p. 51-57 , 2019
Link: https://doi.org/10.1016/..
 
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14

Editor's Focus:

Haijes, Hanneke A. ; van Thiel, Ghislaine J. M. W.
Pediatric Research.  79 (2016)  5 - p. 675-675 , 2016
Link: https://doi.org/10.1038/..
 
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15

Key features and clinical variability of COG6-CDG:

Rymen, Daisy ; Winter, Julia ; Van Hasselt, Peter M....
Molecular Genetics and Metabolism.  116 (2015)  3 - p. 163-170 , 2015
Link: https://doi.org/10.1016/..
 
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