Gabriella Fernandes-Pires
Overview
Explore the profile of Gabriella Fernandes-Pires including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
4
Citations
35
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Fernandes-Pires G, Azevedo M, Lanzillo M, Roux-Petronelli C, Binz P, Cudalbu C, et al.
Mol Ther Methods Clin Dev
. 2024 May;
32(2):101251.
PMID: 38745894
Creatine deficiency syndromes (CDS), caused by mutations in (AGAT), , and , mainly affect the central nervous system (CNS). CDS show brain creatine (Cr) deficiency, intellectual disability with severe speech...
2.
Fernandes-Pires G, Braissant O
Mol Genet Metab
. 2022 Jan;
135(1):15-26.
PMID: 34972654
Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS). AGAT- and GAMT-deficient patients lack the functional...
3.
Duran-Trio L, Fernandes-Pires G, Grosse J, Soro-Arnaiz I, Roux-Petronelli C, Binz P, et al.
J Inherit Metab Dis
. 2021 Dec;
45(2):278-291.
PMID: 34936099
Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, and as a compound with anabolic and ergogenic...
4.
Duran-Trio L, Fernandes-Pires G, Simicic D, Grosse J, Roux-Petronelli C, Bruce S, et al.
Sci Rep
. 2021 Jan;
11(1):1636.
PMID: 33452333
Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from...