E-LIB Suche - Ergebnisse für: Lourenco, Charles

1

"Cassandra Curse" or a modern "Sisyphus Burden"? Recurrent ..:

Lourenco, Charles ; Albuquerque, Regina ; Fonseca, Jacqueline...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108306 , 2024

Link: https://doi.org/10.1016/..

2

P015: Connecting the dots (and neurons): Unraveling the gen..:

Lourenco, Charles ; Queiroz, Amadeu ; Sansao, Lilian...
Genetics in Medicine Open. 2 (2024) - p. 100892 , 2024

Link: https://doi.org/10.1016/..

3

P025: Sapropterin therapy in DHPR deficiency: Overcoming ba..:

Lourenco, Charles ; Albuquerque, Regina ; Sansao, Lilian...
Genetics in Medicine Open. 1 (2023) 1 - p. 100035 , 2023

Link: https://doi.org/10.1016/..

4

P024: Next generation sequencing in the diagnosis of acute ..:

Lourenco, Charles ; Queiroz, Amadeu ; Albuquerque, Regina..
Genetics in Medicine Open. 1 (2023) 1 - p. 100034 , 2023

Link: https://doi.org/10.1016/..

5

P235: Cerebellar ataxia with hypogonadism: Clinical clues t..:

Lourenco, Charles ; Queiroz, Amadeu ; Albuquerque, Regina..
Genetics in Medicine Open. 1 (2023) 1 - p. 100263 , 2023

Link: https://doi.org/10.1016/..

6

P236: Harnessing the power of genomics: Development of a we..:

Lourenco, Charles ; Candido, Raissa ; Bastos, Clarisse..
Genetics in Medicine Open. 1 (2023) 1 - p. 100264 , 2023

Link: https://doi.org/10.1016/..

7

UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WIT..:

Lourenco, Charles ; Albuquerque, Regina ; Queiroz, Amadeu...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107449 , 2023

Link: https://doi.org/10.1016/..

8

Fractionated plasma N‐glycan profiling of novel cohort of A..:

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 300-312 , 2023

Link: https://doi.org/10.1002/..

9

Doença de Krabbe: relato de casos sobre o espectro fenotípi..:

Carneiro, Zumira ; Lourenço, Charles ; Barbosa, Gabriela Cruz.
Arquivos de Ciências da Saúde. 28 (2021) 1 - p. 53 , 2021

Link: https://doi.org/10.17696..

10

Characterization of The Brazilian ARSACS Phenotype: Clinica..:

Filho, Flavio Rezende ; Pedroso, Jose Luiz ; Sallum, Juliana Maria...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..

11

Recommendations for evaluation and management of pain in pa..:

Politei, Juan ; Gonzalez, Gisel Gordillo ; Guelbert, Norberto...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S120 , 2018

Link: https://doi.org/10.1016/..

12

DNM1encephalopathy: A new disease of vesicle fission:

von Spiczak, Sarah ; Helbig, Katherine L. ; Shinde, Deepali N....
Neurology. 89 (2017) 4 - p. 385-394 , 2017

Link: https://doi.org/10.1212/..

13

Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:

Lourenco, Charles ; Sobreira, Claudia ; Giugliani, Roberto..
Neurology. 82 (2014) 10_supplement - p. , 2014

Link: https://doi.org/10.1212/..

14

Can Glucose Disorders Affect the Severity of CMT1A Neuropat..:

Algemiro, Juliana ; Leal, Rita De Cassia ; Lourenco, Charles...
Neurology. 82 (2014) 10_supplement - p. , 2014

Link: https://doi.org/10.1212/..

15

Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:

Lourenco, Charles ; Sobreira, Claudia ; Giugliani, Roberto..
Neurology. 82 (2014) 10_supplement - p. , 2014

Link: https://doi.org/10.1212/..