Prenatal diagnosis of Tay-Sachs disease

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

Gene therapy·2003

Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.

Clinical genetics·2002

Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.

Human molecular genetics·2002

From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system.

Annals of medicine·2001

Gene therapy in lysosomal diseases.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2000

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Neurology·2000

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Lancet (London, England)·2026

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Lancet (London, England)·2026

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Lancet (London, England)·2026

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Lancet (London, England)·2026

Novel RT‒qPCR-based blood signatures for the diagnosis of pulmonary tuberculosis.

Scientific reports·2026

Evaluation of a novel high-capacity dry plasma biosampling-lateral flow device for the testing of traumatic brain injury protein biomarkers.

Journal of advanced research·2026

Integration of Functional Mapping and Image-Guided Structural Information in Ventricular Tachycardia Ablation - Sense2 Mapping.

Heart rhythm·2026

Low-temperature-tolerant Cas12a enables instrument-free detection of fungal pathogens at mushroom cultivation temperatures.

International journal of biological macromolecules·2026

Application of nanomaterials in the detection and therapeutic drug monitoring of Hepatitis B virus.

Acta histochemica·2026

Diagnostic Performance of Machine Learning for Systemic Lupus Erythematosus: Systematic Review and Meta-Analysis.

Journal of medical Internet research·2026

Related Experiment Videos

Prenatal diagnosis of Tay-Sachs disease

Related Concept Videos

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.

Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.

From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system.

Gene therapy in lysosomal diseases.

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Novel RT‒qPCR-based blood signatures for the diagnosis of pulmonary tuberculosis.

Evaluation of a novel high-capacity dry plasma biosampling-lateral flow device for the testing of traumatic brain injury protein biomarkers.

Integration of Functional Mapping and Image-Guided Structural Information in Ventricular Tachycardia Ablation - Sense2 Mapping.

Low-temperature-tolerant Cas12a enables instrument-free detection of fungal pathogens at mushroom cultivation temperatures.

Application of nanomaterials in the detection and therapeutic drug monitoring of Hepatitis B virus.

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Prenatal diagnosis of Tay-Sachs disease

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