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Ferreira, Carlos R. R
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1

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phen..:

van Karnebeek, Clara D.M. ; Tarailo-Graovac, Maja ; Leen, René...
Genetics in Medicine.  26 (2024)  6 - p. 101104 , 2024
Link: https://doi.org/10.1016/..
 
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2

Metabolic diseases:

, In: Translational Glycobiology in Human Health and Disease,
Rossignol, Francis ; Ferreira, Carlos R. - p. 255-283 , 2024
Link: https://doi.org/10.1016/..
 
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3

Clinical and biochemical footprints of congenital disorders..:

Ng, Bobby G. ; Freeze, Hudson H. ; Himmelreich, Nastassja..
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108476 , 2024
Link: https://doi.org/10.1016/..
 
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4

Pilot study to evaluate the safety and effectiveness of eti..:

Ferrante, Elisa A ; Cudrici, Cornelia D ; Rashidi, Mahmood...
Vascular Medicine.  29 (2024)  3 - p. 245-255 , 2024
Link: https://doi.org/10.1177/..
 
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5

List of contributors:

, In: Translational Glycobiology in Human Health and Disease,
Agatemor, Christian ; Alisson-Silva, Frederico ; Allman, Sarah A.... - p. xi-xiv , 2024
Link: https://doi.org/10.1016/..
 
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6

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases ..:

Ferreira, Carlos R. ; Carpenter, Thomas O. ; Braddock, Demetrios T.
Annual Review of Pathology: Mechanisms of Disease.  19 (2024)  1 - p. 507-540 , 2024
Link: https://doi.org/10.1146/..
 
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7

Quantitative correlation of ENPP1 pathogenic variants with ..:

Ansh, Anenya Jai ; Stabach, Paul R. ; Ciccone, Carla...
Bone.  186 (2024)  - p. 117136 , 2024
Link: https://doi.org/10.1016/..
 
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8

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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9

Clinical and biochemical footprints of inherited metabolic ..:

de Boer, Lonneke ; Cambi, Alessandra ; Verhagen, Lilly M....
Molecular Genetics and Metabolism.  139 (2023)  1 - p. 107582 , 2023
Link: https://doi.org/10.1016/..
 
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10

Clinical and biochemical footprints of inherited metabolic ..:

Salazar, Denise ; Kloke, Karen M. ; Guerrero, Rubén Bonilla..
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107528 , 2023
Link: https://doi.org/10.1016/..
 
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11

Identification of potential non-invasive biomarkers in dias..:

Paganini, Chiara ; Carroll, Ricki S. ; Gramegna Tota, Chiara...
Bone.  175 (2023)  - p. 116838 , 2023
Link: https://doi.org/10.1016/..
 
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12

Biallelic variants in PIGN cause Fryns syndrome, multiple c..:

Loong, Lucy ; Tardivo, Agostina ; Knaus, Alexej...
Genetics in Medicine.  25 (2023)  1 - p. 37-48 , 2023
Link: https://doi.org/10.1016/..
 
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13

Clinical and biochemical footprints of inherited metabolic ..:

Latzer, Itay Tokatly ; Blau, Nenad ; Ferreira, Carlos R..
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107690 , 2023
Link: https://doi.org/10.1016/..
 
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14

Clinical and biochemical footprints of inherited metabolic ..:

Schumann, Anke ; Schultheiss, Ulla T. ; Ferreira, Carlos R..
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107683 , 2023
Link: https://doi.org/10.1016/..
 
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15

Clinical and biochemical footprints of inherited metabolic ..:

Rossi, Alessandro ; Basilicata, Simona ; Borrelli, Melissa...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107655 , 2023
Link: https://doi.org/10.1016/..
 
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