Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene

Oncogenic role of PDK4 in human colon cancer cells.

British journal of cancer·2017

MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring.

Neuroscience·2015

A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.

Human molecular genetics·2013

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.

Genes and immunity·2010

Light modulation with resonant grating-waveguide structures.

Optics letters·2009

Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection.

Genes and immunity·2009

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

Beyond the Numbers: A Practical Framework for Interpreting the Full Blood Count for Foundation Doctors.

Cureus·2026

Clonal hematopoiesis is associated with adverse events in patients with high-grade carotid artery stenosis.

Atherosclerosis plus·2026

BCG-YOLO: an efficient YOLO-based framework for multi-class blood cell detection in microscopic images.

Frontiers in medicine·2026

Transient Cold Hemagglutinin Disease (CHAD) During Cardiac Surgery: An Unexpected Complication from Hypothermia.

Journal of cardiovascular and thoracic research·2026

Supernatants from stored platelet concentrates modulate the inflammatory response in platelet-depleted blood ex vivo.

Frontiers in immunology·2026

Comparative prognostic analysis of allogeneic hematopoietic stem cell transplantation regimens in the treatment of severe aplastic anemia.

Frontiers in immunology·2026

Related Experiment Videos

Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene

Related Concept Videos

Oncogenic role of PDK4 in human colon cancer cells.

MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring.

A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.

Light modulation with resonant grating-waveguide structures.

Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection.

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.

Beyond the Numbers: A Practical Framework for Interpreting the Full Blood Count for Foundation Doctors.

Clonal hematopoiesis is associated with adverse events in patients with high-grade carotid artery stenosis.

BCG-YOLO: an efficient YOLO-based framework for multi-class blood cell detection in microscopic images.

Transient Cold Hemagglutinin Disease (CHAD) During Cardiac Surgery: An Unexpected Complication from Hypothermia.

Supernatants from stored platelet concentrates modulate the inflammatory response in platelet-depleted blood ex vivo.

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Related Experiment Videos

Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene

Related Concept Videos

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