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Morava, Eva
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1

TRAPPC11-CDG muscular dystrophy: Review of 54 cases includi..:

Corona-Rivera, Jorge Román ; Martínez-Duncker, Iván ; Morava, Eva...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108469 , 2024
Link: https://doi.org/10.1016/..
 
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2

D-Mannose as a new therapy for fucokinase deficiency-relate..:

Starosta, Rodrigo ; Lee, Angela ; Toolan, Elizabeth...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108320 , 2024
Link: https://doi.org/10.1016/..
 
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3

Neurological manifestations in PMM2-congenital disorders of..:

Muthusamy, Karthik ; Perez-Ortiz, Judit M. ; Ligezka, Anna N....
Genetics in Medicine.  26 (2024)  2 - p. 101027 , 2024
Link: https://doi.org/10.1016/..
 
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4

Molecules, metabolism and genetics:

Morava, Eva
Molecular Genetics and Metabolism.  141 (2024)  1 - p. 108126 , 2024
Link: https://doi.org/10.1016/..
 
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5

Neural and metabolic dysregulation in PMM2-deficient human ..:

Radenkovic, Silvia ; Budhraja, Rohit ; Klein-Gunnewiek, Teun...
Cell Reports.  43 (2024)  3 - p. 113883 , 2024
Link: https://doi.org/10.1016/..
 
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6

Semiautomated approach focused on new genomic information r..:

Ferrer, Alejandro ; Duffy, Patrick ; Olson, Rory J....
Human Genetics.  143 (2024)  5 - p. 649-666 , 2024
Link: https://doi.org/10.1007/..
 
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7

A complement C4–derived glycopeptide is a biomarker for PMM..:

Garapati, Kishore ; Budhraja, Rohit ; Saraswat, Mayank...
JCI Insight.  9 (2024)  7 - p. , 2024
Link: https://doi.org/10.1172/..
 
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8

D-mannose as a new therapy for fucokinase deficiency-relate..:

Starosta, Rodrigo Tzovenos ; Lee, Angela J. ; Toolan, Elizabeth R....
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108488 , 2024
Link: https://doi.org/10.1016/..
 
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9

From periphery immunity to central domain through clinical ..:

Krzyściak, Wirginia ; Szwajca, Marta ; Śmierciak, Natalia...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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10

Normal transferrin glycosylation does not rule out severe A..:

Bosnyak, Inez ; Sadek, Mustafa ; Ranatunga, Wasantha..
JIMD Reports.  65 (2024)  3 - p. 135-143 , 2024
Link: https://doi.org/10.1002/..
 
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11

SSR4-CDG, an ultra-rare X-linked congenital disorder of gly..:

Johnsen, Christin ; Tabatadze, Nazi ; Radenkovic, Silvia...
Molecular Genetics and Metabolism.  142 (2024)  3 - p. 108477 , 2024
Link: https://doi.org/10.1016/..
 
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12

Liposome-encapsulated mannose-1-phosphate therapy improves ..:

Budhraja, Rohit ; Radenkovic, Silvia ; Jain, Anu...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108487 , 2024
Link: https://doi.org/10.1016/..
 
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13

Cardiomyopathy, an uncommon phenotype of congenital disorde..:

Zemet, Roni ; Hope, Kyle D. ; Edmondson, Andrew C....
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108513 , 2024
Link: https://doi.org/10.1016/..
 
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14

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient..:

Budhraja, Rohit ; Joshi, Neha ; Radenkovic, Silvia...
PROTEOMICS.  , 2024
Link: https://doi.org/10.1002/..
 
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15

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Upd..:

Shah, Rameen ; Eklund, Erik A. ; Radenkovic, Silvia...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108472 , 2024
Link: https://doi.org/10.1016/..
 
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