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Jaeken, Jaak
340
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Online (340)
Mediatypes
Articles (Online) (179)
Bookchapter (Online) (9)
OpenAccess-fulltext (152)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
12
Disorders of Glutamine, Serine and Asparagine Metabolism:
, In:
Inborn Metabolic Diseases
,
Jaeken, Jaak
;
Häberle, Johannes
;
Dulac, Olivier
- p. 471-479 , 2022
Link:
https://doi.org/10.1007/..
?
13
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/..
?
14
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/..
?
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/..
1-15