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Jaeken, Jaak
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1

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3585-3601.e22 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell.  187 (2024)  14 - p. 3784 , 2024
Link: https://doi.org/10.1016/..
 
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4

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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5

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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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

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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8

COG6‐CDG: Novel variants and novel malformation:

Cirnigliaro, Lara ; Bianchi, Paolo ; Sturiale, Luisa...
Birth Defects Research.  114 (2022)  5-6 - p. 165-174 , 2022
Link: https://doi.org/10.1002/..
 
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9

Defective IGF-1 prohormone N-glycosylation and reduced IGF-..:

Di Patria, Laura ; Annibalini, Giosuè ; Morrone, Amelia...
Cellular and Molecular Life Sciences.  79 (2022)  3 - p. , 2022
Link: https://doi.org/10.1007/..
 
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10

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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11

CDG or not CDG:

Freeze, Hudson H. ; Jaeken, Jaak ; Matthijs, Gert
Journal of Inherited Metabolic Disease.  45 (2022)  3 - p. 383-385 , 2022
Link: https://doi.org/10.1002/..
 
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12

PMM2‐CDG and nephrotic syndrome: A case report:

Banderali, Giuseppe ; Salvatici, Elisabetta ; Rovelli, Valentina.
Clinical Case Reports.  10 (2022)  2 - p. , 2022
Link: https://doi.org/10.1002/..
 
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13

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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14

Stakeholders' views on drug development: the congenital dis..:

Monticelli, Maria ; Francisco, Rita ; Brasil, Sandra...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

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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