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Embiruçu, Emilia K.
19  results:
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1

Autosomal Recessive Cerebellar Ataxias in South America: A ..:

Gama, Maria Thereza D. ; Braga‐Neto, Pedro ; Rangel, Deborah M....
Movement Disorders.  37 (2022)  8 - p. 1773-1774 , 2022
Link: https://doi.org/10.1002/..
 
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2

Adenosine kinase deficiency presenting with tortuous cervic..:

Paz, José A. ; Embiruçu, Emilia K. ; Bueno, Clarissa...
JIMD Reports.  62 (2021)  1 - p. 49-55 , 2021
Link: https://doi.org/10.1002/..
 
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3

CBS mutations are good predictors for B6‐responsiveness: A ..:

Poloni, Soraia ; Sperb‐Ludwig, Fernanda ; Borsatto, Taciane...
Molecular Genetics & Genomic Medicine.  6 (2018)  2 - p. 160-170 , 2018
Link: https://doi.org/10.1002/..
 
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4

Adenosine kinase deficiency presenting with tortuous cervic..:

José A. Paz ; Emilia K. Embiruçu ; Clarissa Bueno...
https://doi.org/10.1002/jmd2.12252.  , 2021
Link: https://doi.org/10.1002/..
 
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5

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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6

Classic and Atypical Late Infantile Neuronal Ceroid Lipofus..:

Guelbert, Norberto ; Espitia Segura, Oscar Mauricio ; Amoretti, Carolina...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101060 , 2024
Link: https://doi.org/10.1016/..
 
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7

Clinical management and diagnosis of CLN2 disease: consensu..:

Sampaio, Leticia Pereira de Brito ; Manreza, Maria Luiza Giraldes de ; Pessoa, André...
Arquivos de Neuro-Psiquiatria.  81 (2023)  3 - p. 284-295 , 2023
Link: https://doi.org/10.1055/..
 
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8

Sanfilippo syndrome type B: Analysis of patients diagnosed ..:

Montenegro, Yorran Hardman Araújo ; de Souza, Carolina Fischinger Moura ; Kubaski, Francyne...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 760-767 , 2021
Link: https://doi.org/10.1002/..
 
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9

Position of Experts Regarding Follow-Up of Patients with Ne..:

Guelbert, Norberto ; Atanacio, Nora ; Denzler, Inés...
Journal of Inborn Errors of Metabolism and Screening.  8 (2020)  - p. , 2020
Link: https://doi.org/10.1590/..
 
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10

An Exploratory Survey on the Care for Ataxic Patients in th..:

Jardim, Laura Bannach ; Hasan, Ali ; Kuo, Sheng-han...
The Cerebellum.  22 (2022)  4 - p. 708-718 , 2022
Link: https://doi.org/10.1007/..
 
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11

A Case Report on the Challenging Diagnosis of Neuronal Cero..:

Nunes, Andrea ; Meira, Joanna ; Cunha, Caio...
Journal of Inborn Errors of Metabolism and Screening.  8 (2020)  - p. , 2020
Link: https://doi.org/10.1590/..
 
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12

Detection and sequencing of Zika virus in normocephalic new..:

de Almeida, Breno Lima ; Giovanetti, Marta ; Oliveira, João Vitor...
International Journal of Infectious Diseases.  114 (2022)  - p. 128-131 , 2022
Link: https://doi.org/10.1016/..
 
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13

Alternative laronidase dose regimen for patients with mucop..:

Horovitz, Dafne Dain Gandelman ; Acosta, Angelina X. ; Giugliani, Roberto...
Orphanet Journal of Rare Diseases.  11 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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14

Mucopolysaccharidosis VII in Brazil: natural history and cl..:

Giugliani, Roberto ; Barth, Anneliese Lopes ; Dumas, Melissa Rossi Calvão...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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15

Hearing Loss in Mucopolysaccharidosis:

Bicalho, Cibele Gomes ; de Araújo Leão, Emília Katiane Embiruçu ; de Andrade, Álvaro Muiños.
International Archives of Otorhinolaryngology.  25 (2020)  3 - p. e386-e391 , 2020
Link: https://doi.org/10.1055/..
 
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