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Glòria Garrabou

Hospital Clínic de Barcelona
H指数:31
被引数:3,382

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TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis

TfR1缺乏超越联合免疫缺陷。线粒体功能和铁硫簇生物合成在疾病发病机制中的关键作用

2026-09-290
PRE
Patient-Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

患者来源的成纤维细胞作为Kearns–Sayre综合征的临床相关模型

2026-09-180
OAAI
Exploring Oxidative Stress in Different Endometriosis Phenoptypes: Insights from Ovarian and Systemic Perspectives by the Study of SIRT3

探索不同子宫内膜异位症表型中的氧化应激:基于SIRT3研究的卵巢和全身视角的见解

2026-03-030
OAAI
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience

建模遗传代谢病儿科患者转诊至成人医院:临床经验

2025-12-230
OAAI
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome

复合体IV缺乏症由COX4I1深部内含子及新生变异引起,导致进行性运动障碍和 Leigh 综合征。

2025-11-050
OAAI
Anti-Mi2 autoantibodies target PHD fingers of SP140L and TIF1γ, while anti-TIF1γ autoantibodies primarily bind TIF1γ outside the PHD region

抗Mi2自身抗体靶向SP140L和TIF1γ的PHD手指结构域,而抗TIF1γ自身抗体主要结合PHD结构域外的TIF1γ。

2025-08-010
PRE
Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis

人诱导多能干细胞衍生的肌管模型包涵体肌炎

2025-02-210
OAAI
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
2024-09-041
OA
Aerobic capacity and mitochondrial function in bipolar disorder: a longitudinal study during acute phases and after clinical remission
2024-03-261
OAAI
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
2023-12-012
OAAI
Reduced mitochondrial respiratory capacity in patients with acute episodes of bipolar disorder: Could bipolar disorder be a state-dependent mitochondrial disease?
2023-11-295
PRE
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review
2023-10-081
OAAI
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis

用于推断包涵体肌炎分子参与者的整合多组学分析

2023-08-193
OAAI
Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature
2023-08-019
OAAI