Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism·2021

Differential Age-Dependent Mitochondrial Dysfunction, Oxidative Stress, and Apoptosis Induced by Neonatal Hypoxia-Ischemia in the Immature Rat Brain.

Molecular neurobiology·2021

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.

Metabolic brain disease·2020

Universal newborn screening: A roadmap for action.

Molecular genetics and metabolism·2018

Worldwide distribution of common IDUA pathogenic variants.

Clinical genetics·2018

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Orphanet journal of rare diseases·2017

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

No significant change in urinary sodium excretion within 48h after Roux-en-Y gastric bypass surgery: the weight LUSER study.

Annals of the Royal College of Surgeons of England·2026

Gut-liver axis and intestinal microbiota: Key targets of herbal medicines in treatment of MASLD/MASH.

Chinese herbal medicines·2026

Evaluating traditional Chinese medicine modulation of the gut microbiota-bile acid axis in metabolic and inflammatory diseases: mechanistic evidence and translational priorities.

Frontiers in microbiology·2026

Molecular mechanisms, crosstalk and therapeutic potential of novel acylation modifications in cardiovascular and cerebrovascular diseases.

Acta pharmaceutica Sinica. B·2026

Unraveling the pyroptosis-mitophagy axis: from molecular mechanisms to therapeutic opportunities.

Frontiers in immunology·2026

The Association Between Magnesium Depletion Score and Depression Among Men in Central Sudan: A Community-Based Cross-Sectional Study.

Health science reports·2026

Related Experiment Videos

Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil

Related Concept Videos

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Differential Age-Dependent Mitochondrial Dysfunction, Oxidative Stress, and Apoptosis Induced by Neonatal Hypoxia-Ischemia in the Immature Rat Brain.

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.

Universal newborn screening: A roadmap for action.

Worldwide distribution of common IDUA pathogenic variants.

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

No significant change in urinary sodium excretion within 48h after Roux-en-Y gastric bypass surgery: the weight LUSER study.

Gut-liver axis and intestinal microbiota: Key targets of herbal medicines in treatment of MASLD/MASH.

Evaluating traditional Chinese medicine modulation of the gut microbiota-bile acid axis in metabolic and inflammatory diseases: mechanistic evidence and translational priorities.

Molecular mechanisms, crosstalk and therapeutic potential of novel acylation modifications in cardiovascular and cerebrovascular diseases.

Unraveling the pyroptosis-mitophagy axis: from molecular mechanisms to therapeutic opportunities.

The Association Between Magnesium Depletion Score and Depression Among Men in Central Sudan: A Community-Based Cross-Sectional Study.

Related Experiment Videos

Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil

Related Concept Videos

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