Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Journal of assisted reproduction and genetics·2023

Can tibio-femoral kinematic and kinetic parameters reveal poor functionality and underlying deficits after total knee replacement? A systematic review.

The Knee·2021

[Long and short QT syndromes : Emergency treatment and secondary prophylaxis].

Herzschrittmachertherapie & Elektrophysiologie·2020

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Clinical genetics·2017

Garlic diallyl disulfide and diallyl trisulfide mitigates effects of pro-oxidant induced cellular stress and has immune modulatory function in LPS-stimulated porcine epithelial cells.

Journal of animal science·2017

Ability of garlic-derived diallyl disulfide and diallyl trisulfide supplemented by oral gavage to mitigate effects of an acute postweaning feed and water deprivation event in nursery pigs.

Journal of animal science·2017

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

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

Molecular biophysics of viral proteins: From mechanistic insights to microbiological and clinical applications.

AIMS microbiology·2026

Tissue-Specific Isolation of Hepatocyte Extracellular Vesicles From Human Plasma Enables Tissue-Resolved Proteomic and miRNA Profiling.

Journal of extracellular vesicles·2026

ALKBH5 inhibitors for cancer therapy: molecular docking, challenges and future prospects.

Frontiers in pharmacology·2026

Evaluating Precision and Responsiveness of MRI-derived Brain Volumetric and Clinical Outcome Measures in CLN3 Disease.

medRxiv : the preprint server for health sciences·2026

Tuning nanoscale lipid clustering controls influenza viral binding.

bioRxiv : the preprint server for biology·2026

Antibody-recruiting molecules based on mimotope fusion peptides and a dimeric antibiotic.

bioRxiv : the preprint server for biology·2026

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Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Related Concept Videos

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Can tibio-femoral kinematic and kinetic parameters reveal poor functionality and underlying deficits after total knee replacement? A systematic review.

[Long and short QT syndromes : Emergency treatment and secondary prophylaxis].

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Garlic diallyl disulfide and diallyl trisulfide mitigates effects of pro-oxidant induced cellular stress and has immune modulatory function in LPS-stimulated porcine epithelial cells.

Ability of garlic-derived diallyl disulfide and diallyl trisulfide supplemented by oral gavage to mitigate effects of an acute postweaning feed and water deprivation event in nursery pigs.

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).

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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.

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Molecular biophysics of viral proteins: From mechanistic insights to microbiological and clinical applications.

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ALKBH5 inhibitors for cancer therapy: molecular docking, challenges and future prospects.

Evaluating Precision and Responsiveness of MRI-derived Brain Volumetric and Clinical Outcome Measures in CLN3 Disease.

Tuning nanoscale lipid clustering controls influenza viral binding.

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Related Experiment Videos

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

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