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Jaeken, Jaak
345  results:
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1

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Instrumented assessment of gait disturbance in PMM2-CDG adu..:

Cirnigliaro, Lara ; Pettinato, Fabio ; Valle, Maria Stella...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Natural history of three late-diagnosed classic Galactosemi..:

Quelhas, Dulce ; Kingma, Sandra D.K. ; Jonckheere, An I....
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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4

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  , 2024
Link: https://doi.org/10.1016/..
 
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5

Congenital disorders of glycosylation: narration of a story..:

Monticelli, Maria ; D'Onofrio, Tania ; Jaeken, Jaak...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

Congenital disorders of glycosylation (CDG): state of the a..:

Francisco, Rita ; Brasil, Sandra ; Poejo, Joana...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

A Community-Based Participatory Framework to Co-Develop Pat..:

Falcão, Marta ; Allocca, Mariateresa ; Rodrigues, Ana Sofia...
International Journal of Environmental Research and Public Health.  20 (2023)  2 - p. 968 , 2023
Link: https://doi.org/10.3390/..
 
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8

Genetic modifiers in glycosylation pathways: Is there a lin..:

Quelhas, Dulce ; Jaeken, Jaak ; Azevedo, Luisa
Journal of Inherited Metabolic Disease.  46 (2022)  1 - p. 1-2 , 2022
Link: https://doi.org/10.1002/..
 
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9

The road to successful people-centric research in rare dise..:

Francisco, Rita ; Brasil, Sandra ; Pascoal, Carlota...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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10

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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11

Successful heart transplantation in an infant with phosphog..:

Altassan, Ruqaiah ; Albert‐Brotons, Dimpna C. ; Alowain, Mohammad...
JIMD Reports.  64 (2022)  2 - p. 123-128 , 2022
Link: https://doi.org/10.1002/..
 
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12

CAMLG-CDG: a novel congenital disorder of glycosylation lin..:

Wilson, Matthew P ; Durin, Zoé ; Unal, Özlem...
Human Molecular Genetics.  31 (2022)  15 - p. 2571-2581 , 2022
Link: https://doi.org/10.1093/..
 
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13

A Community-Led Approach as a Guide to Overcome Challenges ..:

Francisco, Rita ; Brasil, Sandra ; Pascoal, Carlota...
International Journal of Environmental Research and Public Health.  19 (2022)  11 - p. 6829 , 2022
Link: https://doi.org/10.3390/..
 
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14

Systematic Review: Drug Repositioning for Congenital Disord..:

Brasil, Sandra ; Allocca, Mariateresa ; Magrinho, Salvador C. M....
International Journal of Molecular Sciences.  23 (2022)  15 - p. 8725 , 2022
Link: https://doi.org/10.3390/..
 
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15

Epidemiology of congenital disorders of glycosylation (CDG)..:

Piedade, Ana ; Francisco, Rita ; Jaeken, Jaak...
Journal of Rare Diseases.  1 (2022)  1 - p. , 2022
Link: https://doi.org/10.1007/..
 
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