Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience

[Limbal diseases].

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The mutation p.D313Y is associated with organ manifestation in Fabry disease.

Clinical genetics·2017

Asthma characteristics and biomarkers from the Airways Disease Endotyping for Personalized Therapeutics (ADEPT) longitudinal profiling study.

Respiratory research·2015

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European annals of allergy and clinical immunology·2015

SMAD4 exerts a tumor-promoting role in hepatocellular carcinoma.

Oncogene·2014

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

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Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

EXPRESS: Diagnostic Accuracy of Noninvasive Translesional Pressure Ratio Based on Magnetic Resonance Imaging for Intracranial Atherosclerotic Stenosis: A Validation Study.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism·2026

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Frontiers in medicine·2026

Body composition in stable COPD: associations with disease severity and early sarcopenia prediction.

Frontiers in nutrition·2026

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Frontiers in veterinary science·2026

Utility and safety of a self-developed patent chest strap in endoscopic transaxillary thyroid surgery: a prospective comparative effectiveness study.

Scientific reports·2026

SLEEP APNEA IN STABLE HEART FAILURE: CLINICAL, POLYGRAPHIC AND ECHOCARDIOGRAPHIC CHARACTERISTICS.

Respiratory medicine·2026

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[Limbal diseases].

Material risk: vitreoretinal surgery, evisceration, enucleation and sympathetic ophthalmia-where are we currently?

The mutation p.D313Y is associated with organ manifestation in Fabry disease.

Asthma characteristics and biomarkers from the Airways Disease Endotyping for Personalized Therapeutics (ADEPT) longitudinal profiling study.

Vaccination during concurrent subcutaneous immunotherapy: safety of simultaneous application.

SMAD4 exerts a tumor-promoting role in hepatocellular carcinoma.

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

EXPRESS: Diagnostic Accuracy of Noninvasive Translesional Pressure Ratio Based on Magnetic Resonance Imaging for Intracranial Atherosclerotic Stenosis: A Validation Study.

AI-based prediction of pulmonary hypertension in COPD patients with cor pulmonale using clinical and CT features.

Body composition in stable COPD: associations with disease severity and early sarcopenia prediction.

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Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience

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