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Juliá Palacios, Natalia
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1

Galactokinase deficiency: lessons from the GalNet registry:

Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin...
Genetics in Medicine.  23 (2021)  1 - p. 202-210 , 2021
Link: https://doi.org/10.1038/..
 
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2

Assessment of intellectual impairment, health‐related quali..:

Keller, Mareike ; Brennenstuhl, Heiko ; Kuseyri Hübschmann, Oya...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1489-1502 , 2021
Link: https://doi.org/10.1002/..
 
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3

Expanding the phenotypic spectrum ofTRAPPC11-related muscul..:

Justel, Maria ; Jou, Cristina ; Sariego-Jamardo, Andrea...
Journal of Medical Genetics.  60 (2023)  10 - p. 965-973 , 2023
Link: https://doi.org/10.1136/..
 
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4

Volumetric study of brain MRI in a cohort of patients with ..:

Alfonsi, Chiara ; Stephan-Otto, Christian ; Cortès-Saladelafont, Elisenda...
Neuroradiology.  64 (2022)  11 - p. 2179-2190 , 2022
Link: https://doi.org/10.1007/..
 
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5

L-serine treatment in patients with GRIN-related encephalop..:

Juliá-Palacios, Natalia ; Olivella, Mireia ; Sigatullina Bondarenko, Mariya...
Brain.  147 (2024)  5 - p. 1653-1666 , 2024
Link: https://doi.org/10.1093/..
 
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6

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics.  32 (2024)  4 - p. 426-434 , 2024
Link: https://doi.org/10.1038/..
 
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7

Consensus guidelines for the diagnosis and management of su..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108363 , 2024
Link: https://doi.org/10.1016/..
 
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8

Clinical and molecular outcomes from the 5-Year natural his..:

Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya...
Journal of Neurodevelopmental Disorders.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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9

Sphingolipid desaturase DEGS1 is essential for mitochondria..:

Planas-Serra, Laura ; Launay, Nathalie ; Goicoechea, Leire...
Journal of Clinical Investigation.  133 (2023)  10 - p. , 2023
Link: https://doi.org/10.1172/..
 
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10

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107624 , 2023
Link: https://doi.org/10.1016/..
 
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11

ATP2B2 de novo variants as a cause of variable neurodevelop..:

Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea...
Genetics in Medicine.  25 (2023)  12 - p. 100971 , 2023
Link: https://doi.org/10.1016/..
 
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12

Phenotypic correlates of structural and functional protein ..:

Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Cesaro, Samuele...
Human Genetics.  142 (2023)  12 - p. 1755-1776 , 2023
Link: https://doi.org/10.1007/..
 
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13

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107647 , 2023
Link: https://doi.org/10.1016/..
 
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14

COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RE..:

Olivella, Mireia ; Santos-Gómez, Ana ; Juliá-Palacios, Natalia...
IBRO Neuroscience Reports.  15 (2023)  - p. S71 , 2023
Link: https://doi.org/10.1016/..
 
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15

Sphingolipid desaturase DEGS1 is essential for mitochondria..:

Planas Serra, Laura ; Launay, Nathalie ; Goicoechea, Leire...
Reproducció del document publicat a: https://doi.org/10.1172/JCI162957.  , 2023
Link: https://doi.org/10.1172/..
 
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