Hypocarnitinaemia in Menkes disease

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

European journal of medical genetics·2015

Metabolism of citrulline in man.

Amino acids·2013

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Molecular genetics and metabolism·2013

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

JIMD reports·2013

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.

Journal of inherited metabolic disease·2012

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

Diagnostic role of N-terminal pro-B-type natriuretic peptide (NT-proBNP) in pediatric syncope in the emergency department: a prospective study.

European journal of pediatrics·2026

Comparison of standard care versus a biomarker algorithm to guide antibiotic stewardship in pediatric intensive care unit: a prospective observational cohort study with historical control (the BASIP study).

European journal of pediatrics·2026

Beyond MVPA minutes: physical activity phenotypes are associated with metabolic profiles in children with obesity.

European journal of pediatrics·2026

Prolonged screen time is associated with increased prevalence of sleep disorders in children.

European journal of pediatrics·2026

Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.

European journal of pediatrics·2026

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

European journal of pediatrics·2026

Sporotrichoid lymphocutaneous infection caused by Candida parapsilosis: A case report and literature review.

Medical mycology case reports·2026

Amebic liver abscess: A case report.

IDCases·2026

Minimally Invasive Tissue Sampling for Postmortem Diagnosis of Tuberculous Meningitis in Zambian Adults.

Open forum infectious diseases·2026

Endoscopic vs microscopic microvascular decompression for trigeminal neuralgia: a systematic review and meta-analysis.

British journal of neurosurgery·2026

Case report of mite infestation of the external ear in Carollia perspicillata: Histological features of the ear.

Veterinaria italiana·2026

Factors associated with clinical severity in scorpion envenomation: a retrospective cross-sectional study in western Mexico between 2021 and 2025.

Frontiers in toxicology·2026

Related Experiment Videos

Hypocarnitinaemia in Menkes disease

Related Concept Videos

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

Metabolism of citrulline in man.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.

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

Diagnostic role of N-terminal pro-B-type natriuretic peptide (NT-proBNP) in pediatric syncope in the emergency department: a prospective study.

Comparison of standard care versus a biomarker algorithm to guide antibiotic stewardship in pediatric intensive care unit: a prospective observational cohort study with historical control (the BASIP study).

Beyond MVPA minutes: physical activity phenotypes are associated with metabolic profiles in children with obesity.

Prolonged screen time is associated with increased prevalence of sleep disorders in children.

Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.

A clinical triage score for MLPA testing in children with microcytosis suspected of deletional alpha-thalassemia.

Sporotrichoid lymphocutaneous infection caused by Candida parapsilosis: A case report and literature review.

Amebic liver abscess: A case report.

Minimally Invasive Tissue Sampling for Postmortem Diagnosis of Tuberculous Meningitis in Zambian Adults.

Endoscopic vs microscopic microvascular decompression for trigeminal neuralgia: a systematic review and meta-analysis.

Case report of mite infestation of the external ear in Carollia perspicillata: Histological features of the ear.

Factors associated with clinical severity in scorpion envenomation: a retrospective cross-sectional study in western Mexico between 2021 and 2025.

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Hypocarnitinaemia in Menkes disease

Related Concept Videos

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