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van den Heuvel, Lambert
311  results:
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1

Plasma chitotriosidase enzyme activity as a novel therapeut..:

Veys, Koenraad ; Elmonem, Mohamed A. ; van den Heuvel, Lambert..
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108454 , 2024
Link: https://doi.org/10.1016/..
 
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2

A longitudinal study of long‐term renal outcome after pedia..:

Vandewiele, Simon ; Herman, Jean ; van den Heuvel, Lambert.
Pediatric Transplantation.  28 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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3

ZBTB11 dysfunction: spectrum of brain abnormalities, bioche..:

Sumathipala, Dulika ; Strømme, Petter ; Fattahi, Zohreh...
Brain.  145 (2022)  7 - p. 2602-2616 , 2022
Link: https://doi.org/10.1093/..
 
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4

Congenital Disorders of Glycosylation:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Jaeken, Jaak ; van den Heuvel, Lambert - p. 1335-1396 , 2022
Link: https://doi.org/10.1007/..
 
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5

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:

Belkheir, Aziza Miriam ; Reunert, Janine ; Elpers, Christiane...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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6

CTNS mRNA molecular analysis revealed a novel mutation in a..:

Papizh, Svetlana ; Serzhanova, Victoria ; Filatova, Alexandra...
BMC Nephrology.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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7

Identification and Characterization of New Variants in FOXR..:

Barbosa-Gouveia, Sofia ; González-Vioque, Emiliano ; Borges, Filipa...
Journal of Clinical Medicine.  8 (2019)  8 - p. 1262 , 2019
Link: https://doi.org/10.3390/..
 
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8

Connective tissue growth factor (CTGF) from basics to clini..:

Ramazani, Yasaman ; Knops, Noël ; Elmonem, Mohamed A....
Matrix Biology.  68-69 (2018)  - p. 44-66 , 2018
Link: https://doi.org/10.1016/..
 
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9

Functional analysis of 126 rare missense variants in CFI as..:

de Jong, Sarah ; Volokhina, Elena ; Nilsson, Sara...
Molecular Immunology.  102 (2018)  - p. 234 , 2018
Link: https://doi.org/10.1016/..
 
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10

The role of complement in the pathogenesis of E. coli media..:

Feitz, Wouter ; Ortiz, Carolina ; Orth-Hoeller, Dorothea...
Molecular Immunology.  102 (2018)  - p. 147 , 2018
Link: https://doi.org/10.1016/..
 
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11

Mutations in SELENBP1, encoding a novel human methanethiol ..:

Pol, Arjan ; Renkema, G. Herma ; Tangerman, Albert...
Nature Genetics.  50 (2017)  1 - p. 120-129 , 2017
Link: https://doi.org/10.1038/..
 
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12

Occurrence of atypical HUS associated with influenza B:

van Hoeve, Karen ; Vandermeulen, Corinne ; Van Ranst, Marc...
European Journal of Pediatrics.  176 (2017)  4 - p. 449-454 , 2017
Link: https://doi.org/10.1007/..
 
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13

Novel biomarker and easy to perform ELISA for monitoring co..:

Riedl, Magdalena ; Hofer, Johannes ; Giner, Thomas...
Journal of Immunological Methods.  435 (2016)  - p. 60-67 , 2016
Link: https://doi.org/10.1016/..
 
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14

Homozygous YME1L1 mutation causes mitochondriopathy with op..:

Hartmann, Bianca ; Wai, Timothy ; Hu, Hao...
eLife.  5 (2016)  - p. , 2016
Link: https://doi.org/10.7554/..
 
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15

Whole exome sequencing of suspected mitochondrial patients ..:

Wortmann, Saskia B. ; Koolen, David A. ; Smeitink, Jan A...
Journal of Inherited Metabolic Disease.  38 (2015)  3 - p. 437-443 , 2015
Link: https://doi.org/10.1007/..
 
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