Matilde Ruiz-Garcia
Overview
Explore the profile of Matilde Ruiz-Garcia including associated specialties, affiliations and a list of published articles.
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19
Citations
118
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Recent Articles
1.
Muenzer J, Burton B, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, Jones S, et al.
J Inherit Metab Dis
. 2024 Sep;
PMID: 39252529
Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked, heterogeneous lysosomal storage disease. Approximately two-thirds of patients develop cognitive impairment, which is difficult to assess in clinical...
2.
Zaldumbide-Alcocer F, Labra-Ruiz N, Carbo-Godinez A, Ruiz-Garcia M, Mendoza-Torreblanca J, Naranjo-Albarran L, et al.
Brain Sci
. 2024 Jul;
14(7).
PMID: 39061442
In the pediatric population, epilepsy is one of the most common neurological disorders that often results in cognitive dysfunction. It affects patients' life quality by limiting academic performance and self-esteem...
3.
Muenzer J, Burton B, Amartino H, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, et al.
Orphanet J Rare Dis
. 2023 Nov;
18(1):357.
PMID: 37974184
Background: Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic disease). The natural...
4.
Muenzer J, Burton B, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, Jones S, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107645.
PMID: 37541906
No abstract available.
5.
Muenzer J, Burton B, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, Jones S, et al.
Mol Genet Metab
. 2023 Jul;
140(3):107646.
PMID: 37517985
No abstract available.
6.
Muenzer J, Burton B, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, Jones S, et al.
Mol Genet Metab
. 2022 Aug;
137(1-2):127-139.
PMID: 36027721
Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study (NCT02055118) investigated the effects of intrathecally administered idursulfase-IT on...
7.
Muenzer J, Burton B, Harmatz P, Gutierrez-Solana L, Ruiz-Garcia M, Jones S, et al.
Mol Genet Metab
. 2022 Aug;
137(1-2):92-103.
PMID: 35961250
Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II; Hunter syndrome). A formulation of idursulfase for intrathecal administration (idursulfase-IT)...
8.
Gonzalez-Dominguez C, Fiesco-Roa M, Gomez-Carmona S, Kleinert-Altamirano A, He M, Daniel E, et al.
Front Genet
. 2021 Oct;
12:777731.
PMID: 34659374
[This corrects the article DOI: 10.3389/fgene.2021.744884.].
9.
Gonzalez-Dominguez C, Fiesco-Roa M, Gomez-Carmona S, Kleinert-Altamirano A, He M, Daniel E, et al.
Front Genet
. 2021 Sep;
12:744884.
PMID: 34567092
This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ,...
10.
Sanchez-Morales A, Urrutia-Osorio M, Camacho-Mendoza E, Rosales-Pedraza G, Davila-Maldonado L, Gonzalez-Duarte A, et al.
Childs Nerv Syst
. 2021 Mar;
37(7):2305-2312.
PMID: 33751228
Purpose: To describe the temporal association of specific acute neurological symptoms in pediatric patients with confirmed SARS-CoV-2 infection between May and August 2020. Methods: We performed a recollection of all...