Metabolic effects of carnitine medication in a patient with multiple acyl-CoA dehydrogenation deficiency

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.

JIMD reports·2015

Random nanolasing in the Anderson localized regime.

Nature nanotechnology·2014

Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy.

Prenatal diagnosis·2013

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

JIMD reports·2013

Bloch-wave engineering of quantum dot micropillars for cavity quantum electrodynamics experiments.

Physical review letters·2012

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.

Clinical genetics·2011

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

Journal of inherited metabolic disease·2026

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

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

Species-specific disordered regions and temperature dependence of bisecting GlcNAc-synthetic enzyme MGAT3.

The Journal of biological chemistry·2026

Bilateral acquired chorea: a unique presentation of diabetic ketoacidosis.

JCEM case reports·2026

Durability of Type 2 Diabetes Remission After Bariatric Surgery: Predictors of Sustained Remission and Glycemic Relapse at Five Years in a Retrospective Single-Center Study.

Obesity surgery·2026

Comparison of 5-year glycemic outcomes after sleeve gastrectomy and Roux-en-Y gastric bypass in patients with pre-operative dysglycemia.

Northern clinics of Istanbul·2026

Total body potassium and body cell mass in adolescents with obesity.

Clinical nutrition ESPEN·2026

Web-based Cellpose‑SAM segmentation enables quantification of cross-sectional area in formalin-fixed paraffin-embedded skeletal muscle sections stained with hematoxylin and eosin.

PloS one·2026

Related Experiment Videos

Metabolic effects of carnitine medication in a patient with multiple acyl-CoA dehydrogenation deficiency

Related Concept Videos

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.

Random nanolasing in the Anderson localized regime.

Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy.

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Bloch-wave engineering of quantum dot micropillars for cavity quantum electrodynamics experiments.

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.

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

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

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

Genome Editing for Glycogen Storage Diseases.

Species-specific disordered regions and temperature dependence of bisecting GlcNAc-synthetic enzyme MGAT3.

Bilateral acquired chorea: a unique presentation of diabetic ketoacidosis.

Durability of Type 2 Diabetes Remission After Bariatric Surgery: Predictors of Sustained Remission and Glycemic Relapse at Five Years in a Retrospective Single-Center Study.

Comparison of 5-year glycemic outcomes after sleeve gastrectomy and Roux-en-Y gastric bypass in patients with pre-operative dysglycemia.

Total body potassium and body cell mass in adolescents with obesity.

Web-based Cellpose‑SAM segmentation enables quantification of cross-sectional area in formalin-fixed paraffin-embedded skeletal muscle sections stained with hematoxylin and eosin.

Related Experiment Videos

Metabolic effects of carnitine medication in a patient with multiple acyl-CoA dehydrogenation deficiency

Related Concept Videos

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