Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase

[New insights in inborn errors of metabolism are leading to new paradigms in child neurology].

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Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.

European journal of neurology·2013

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Journal of inherited metabolic disease·2012

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Molecular genetics and metabolism·2011

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Molecular genetics and metabolism·2011

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Molecular genetics and metabolism·2009

Advances in Systemic Treatment of Breast Cancer.

The New England journal of medicine·2026

Optogenetic Therapy for Restoring Aspects of Visual Function.

The New England journal of medicine·2026

Recurrent Projectile Vomiting as the Sole Presenting Feature of Coeliac Disease With Marsh-Oberhuber Grade 3C Enteropathy in a 13-Year-Old Girl: A Case Report.

Clinical case reports·2026

Caregiver burden and malnutrition in patients with HIV-associated lymphoma: indirect pathways via symptom distress and family closeness, and a test of resilience as a mediator.

Frontiers in nutrition·2026

Mesenchymal stem cells in diabetic kidney disease: Potential regulatory mechanisms and related signaling pathways of mesenchymal stem cells.

Chinese medical journal·2026

Medication-induced Micronutrient Deficiencies in Early-stage Chronic Kidney Disease.

Recent advances in food, nutrition & agriculture·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Clinical Decision Support for Adult Enteral Nutrition: Literature Overview and Preliminary Hospital-Based Evaluation.

Journal of evaluation in clinical practice·2026

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Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase

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[New insights in inborn errors of metabolism are leading to new paradigms in child neurology].

Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Advances in Systemic Treatment of Breast Cancer.

Optogenetic Therapy for Restoring Aspects of Visual Function.

Recurrent Projectile Vomiting as the Sole Presenting Feature of Coeliac Disease With Marsh-Oberhuber Grade 3C Enteropathy in a 13-Year-Old Girl: A Case Report.

Caregiver burden and malnutrition in patients with HIV-associated lymphoma: indirect pathways via symptom distress and family closeness, and a test of resilience as a mediator.

Mesenchymal stem cells in diabetic kidney disease: Potential regulatory mechanisms and related signaling pathways of mesenchymal stem cells.

Medication-induced Micronutrient Deficiencies in Early-stage Chronic Kidney Disease.

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

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Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase

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