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De Souza, Carolina Fischinger Moura
332  Ergebnisse:
Personensuche X
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1

Clinical Characterization and Underlying Genetic Findings i..:

Tolezano, Giovanna Cantini ; Bastos, Giovanna Civitate ; da Costa, Silvia Souza...
Molecular Neurobiology.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Safety and tolerability of losartan for the treatment of ca..:

Poswar, Fabiano O. ; Schneider, Raquel ; Gonzalez, Esteban A....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108002 , 2024
Link: https://doi.org/10.1016/..
 
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3

Brazilian cohort of patients diagnosed with glucose transpo..:

Sobrinho, Livia ; Refosco, Lilia ; Poswar, Fabiano..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108261 , 2024
Link: https://doi.org/10.1016/..
 
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4

Disease progression in Sanfilippo type B: Case series of Br..:

Montenegro, Yorran Hardman Araújo ; Kubaski, Francyne ; Trapp, Franciele Barbosa...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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5

Interim results from the first-in-human intracisternal dosi..:

de Souza, Carolina Fischinger Moura ; Alves, Tamires ; Duarte, Juliana...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107970 , 2024
Link: https://doi.org/10.1016/..
 
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6

General overview of urea cycle disorders (UCDs) in Brazil:

Schwartz, Ida Vanessa Doederlein ; dos Santos, Mariana Lopes ; Fink, Isabela Alicia...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108217 , 2024
Link: https://doi.org/10.1016/..
 
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7

GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA – UNVEILING..:

Medeiros, Leonardo Simão ; De Souza, Carolina Fischinger Moura ; Artigalás, Osvaldo...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107487 , 2023
Link: https://doi.org/10.1016/..
 
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8

Ventricular vascular coupling in mucopolysaccharidosis type..:

Poswar, Fabiano O. ; Pedrini, Diane B. ; Santos, Angela B....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107274 , 2023
Link: https://doi.org/10.1016/..
 
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9

Leigh syndrome global patient registry: uniting patients an..:

Zilber, Sophia ; Woleben, Kasey ; Johnson, Simon C....
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

A Broad Characterization of Glycogen Storage Disease IV Pat..:

Wilke, Matheus Vernet Machado Bressan ; de Oliveira, Bibiana Mello ; Starosta, Rodrigo Tzovenos...
Biomedicines.  11 (2023)  2 - p. 363 , 2023
Link: https://doi.org/10.3390/..
 
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11

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child ..:

de Lima Silva, Elis Vanessa ; Donis, Karina Carvalho ; Machado, Fabiana Rita Camara...
Journal of Neuromuscular Diseases.  10 (2023)  6 - p. 1145-1149 , 2023
Link: https://doi.org/10.3233/..
 
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12

A Brazilian patient with late infantile metachromatic leuko..:

Faqueti, Larissa ; Iop, Gabrielle ; da Silva, Layzon Antonio Lemos...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107094 , 2023
Link: https://doi.org/10.1016/..
 
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13

Progression of Cardiovascular Manifestations in Adults and ..:

Poswar, Fabiano de Oliveira ; Santos, Hallana Souza ; Santos, Angela Barreto Santiago...
Frontiers in Cardiovascular Medicine.  8 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Hypersensitivity reactions and enzyme replacement therapy: ..:

Aranda, Carolina Sanchez ; Aun, Marcelo Vivolo ; Souza, Carolina Fischinger Moura de...
The Journal of Allergy and Clinical Immunology: In Practice.  10 (2022)  3 - p. 870-873.e1 , 2022
Link: https://doi.org/10.1016/..
 
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15

Genotype–phenotype studies in a large cohort of Brazilian p..:

Josahkian, Juliana Alves ; Brusius‐Facchin, Ana Carolina ; Netto, Alice Brinckmann Oliveira...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 349-356 , 2021
Link: https://doi.org/10.1002/..
 
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