Muscular origin of hyperammonaemia

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

Beyond cut-offs: gestational age-specific perinatal mortality across the birthweight-for-gestational-age continuum-a population-based cross-sectional study.

European journal of pediatrics·2026

Efficacy and safety of different doses of intravenous immunoglobulin combined with phototherapy in neonatal hemolytic disease: a systematic review and meta-analysis.

European journal of pediatrics·2026

A quality improvement study on noise reduction in a level 3 neonatal intensive care unit.

European journal of pediatrics·2026

Ultrasound evaluation of quadriceps muscle thickness and body fat distribution in children receiving maintenance hemodialysis: a cross-sectional case-control study.

European journal of pediatrics·2026

Clinical factors associated with retreatment and early coronary outcomes in Kawasaki disease in children aged < 6 months: a single-center cohort study.

European journal of pediatrics·2026

The burden of HIV/AIDS among children and adolescents under 20 years of age in China and ASEAN countries from 1990 to 2023 and projections of future trends.

European journal of pediatrics·2026

Monte Carlo-based correction of geometric and instrumental biases in single-distance time-domain near-infrared spectroscopy on skeletal muscle.

Biomedical optics express·2026

Metaphorical analysis of medical school students' perceptions of schizophrenia.

Dusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi·2026

Enhancing procedural quality and efficiency of methacholine bronchial challenge tests in patients with suspected cough-variant asthma: a quasi-experimental study utilizing nurse-patient communication and respiratory training.

Frontiers in medicine·2026

Prognostic value of left ventricular hypertrophy assessed with <sup>15</sup>O-water positron emission tomography.

European heart journal. Imaging methods and practice·2026

Correction: Phenylbutazone concentrations in synovial fluid following administration via intravenous regional limb perfusion in the forelimbs of six adult horses.

Frontiers in veterinary science·2026

Development of a Unified Framework for Evaluating the Quality of Physician Communication in Prostate Cancer Treatment Consultations.

Medical decision making : an international journal of the Society for Medical Decision Making·2026

Related Experiment Videos

Muscular origin of hyperammonaemia

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.

Beyond cut-offs: gestational age-specific perinatal mortality across the birthweight-for-gestational-age continuum-a population-based cross-sectional study.

Efficacy and safety of different doses of intravenous immunoglobulin combined with phototherapy in neonatal hemolytic disease: a systematic review and meta-analysis.

A quality improvement study on noise reduction in a level 3 neonatal intensive care unit.

Ultrasound evaluation of quadriceps muscle thickness and body fat distribution in children receiving maintenance hemodialysis: a cross-sectional case-control study.

Clinical factors associated with retreatment and early coronary outcomes in Kawasaki disease in children aged < 6 months: a single-center cohort study.

The burden of HIV/AIDS among children and adolescents under 20 years of age in China and ASEAN countries from 1990 to 2023 and projections of future trends.

Monte Carlo-based correction of geometric and instrumental biases in single-distance time-domain near-infrared spectroscopy on skeletal muscle.

Metaphorical analysis of medical school students' perceptions of schizophrenia.

Enhancing procedural quality and efficiency of methacholine bronchial challenge tests in patients with suspected cough-variant asthma: a quasi-experimental study utilizing nurse-patient communication and respiratory training.

Prognostic value of left ventricular hypertrophy assessed with <sup>15</sup>O-water positron emission tomography.

Correction: Phenylbutazone concentrations in synovial fluid following administration via intravenous regional limb perfusion in the forelimbs of six adult horses.

Development of a Unified Framework for Evaluating the Quality of Physician Communication in Prostate Cancer Treatment Consultations.

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Muscular origin of hyperammonaemia

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