Letter: Prenatal diagnosis of metabolic disorders

Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease.

American journal of medical genetics·1992

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis).

The Biochemical journal·1991

Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis).

Developmental neuroscience·1991

Endogenous endophthalmitis due to Salmonella arizonae and Hafnia alvei.

Southern medical journal·1990

Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosis.

Biochimica et biophysica acta·1989

A high-performance liquid chromatography method for the analysis of picomole amounts of oligosaccharides.

Analytical biochemistry·1989

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

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

Targeting Mitochondria in MASLD: Comparative Evaluation of MitoQ and SS-31 (Elamipretide) in Aged Female Mice under Nutritional Stress.

Physiological research·2026

SGLT-2 Inhibitors and GLP-1 Receptor Agonists in Managing Metabolic Syndrome Among Patients with Type 2 Diabetes Mellitus - A Narrative Review.

Cardiovascular & hematological disorders drug targets·2026

LncRNA HIF1A-AS3 Promotes Glycolysis and Regulates Metabolic Reprogramming in Human Mesenchymal Stem Cells.

Current stem cell research & therapy·2026

Mitochondrial Dynamics and Bioenergetic Reprogramming: Drivers of Cancer Therapy Resistance.

Mini reviews in medicinal chemistry·2026

Acupuncture Modulation of the Microbiota-Gut-Brain Axis in Major Depressive Disorder: Integrative Mechanisms, Emerging Evidence, and Future Therapeutic Perspectives.

Neuropsychiatric disease and treatment·2026

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Therapeutic advances in rare disease·2026

Related Experiment Videos

Letter: Prenatal diagnosis of metabolic disorders

Related Concept Videos

Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease.

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis).

Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis).

Endogenous endophthalmitis due to Salmonella arizonae and Hafnia alvei.

Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosis.

A high-performance liquid chromatography method for the analysis of picomole amounts of oligosaccharides.

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

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.

Targeting Mitochondria in MASLD: Comparative Evaluation of MitoQ and SS-31 (Elamipretide) in Aged Female Mice under Nutritional Stress.

SGLT-2 Inhibitors and GLP-1 Receptor Agonists in Managing Metabolic Syndrome Among Patients with Type 2 Diabetes Mellitus - A Narrative Review.

LncRNA HIF1A-AS3 Promotes Glycolysis and Regulates Metabolic Reprogramming in Human Mesenchymal Stem Cells.

Mitochondrial Dynamics and Bioenergetic Reprogramming: Drivers of Cancer Therapy Resistance.

Acupuncture Modulation of the Microbiota-Gut-Brain Axis in Major Depressive Disorder: Integrative Mechanisms, Emerging Evidence, and Future Therapeutic Perspectives.

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

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Letter: Prenatal diagnosis of metabolic disorders

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