DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

Acyl-CoA Binding Protein in White and Brown Adipose Tissue Is Dispensable for Systemic Energy Metabolism in Mice.

Acta physiologica (Oxford, England)·2026

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Revue neurologique·2018

Male patients affected by mosaic PCDH19 mutations: five new cases.

Neurogenetics·2017

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Clinical genetics·2017

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Molecular genetics and metabolism reports·2017

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

European journal of neurology·2016

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Evaluating ChatGPT's Role in Patient Education on Distraction Osteogenesis for Limb Lengthening.

Cureus·2026

Large Language Models Approximate Inter-Expert Agreement in Glaucoma Suspect and Glaucoma Classification from Multimodal Data.

Ophthalmology science·2026

Performance evaluation of a large language model for medication management tasks.

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists·2026

Validity evidence for patient-centered communication behavior descriptions developed through an LLM-assisted workflow: SME and lay patient perspectives.

Patient education and counseling·2026

Benchmarking large language models and clinicians using locally generated primary healthcare vignettes in Kenya.

BMJ digital health & AI·2026

Post-TAVR LVOTO: Contemporary Management and Clinical Outcomes.

Heart, lung & circulation·2026

Related Experiment Videos

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

Related Concept Videos

Acyl-CoA Binding Protein in White and Brown Adipose Tissue Is Dispensable for Systemic Energy Metabolism in Mice.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Male patients affected by mosaic PCDH19 mutations: five new cases.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Evaluating ChatGPT's Role in Patient Education on Distraction Osteogenesis for Limb Lengthening.

Large Language Models Approximate Inter-Expert Agreement in Glaucoma Suspect and Glaucoma Classification from Multimodal Data.

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DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

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