Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

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A psychosocial model of a medical problem: Maternal phenylketonuria.

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Newborn Screening for Glutaric Aciduria-II: The New England Experience.

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Rights, respect for dignity and end-of-life care: time for a change in the concept of informed consent.

Journal of medical ethics·2009

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Molecular genetics and metabolism·2008

A 6-Year-Old With Becker Muscular Dystrophy and Catatonia.

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Flourishing Childhood Frameworks: A Scoping Review.

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AI at the Bedside: An Argument for a Training Wheels Approach.

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Immersive Virtual Reality and Anxiety, Nausea, and Vomiting in Children With Cancer: An RCT.

Pediatrics·2026

Potential Neonatal Donors in Australia: A National Cohort Study.

Pediatrics·2026

Lactate-to-albumin ratio, C-reactive protein-to-albumin ratio, and prognostic nutritional index in acute and critical care: A focused mini-review.

World journal of critical care medicine·2026

Unraveling the Need for standardization of Homocysteine Assay: Insights from the Results of External Quality Assurance.

EJIFCC·2026

Bisalbuminemia: A Rare Finding Identified via Serum Protein Agarose Gel Electrophoresis and Capillary Electrophoresis Techniques.

EJIFCC·2026

Bioavailability of rumen-protected L-methionine supplement in lactating dairy cows.

JDS communications·2026

Translating blood-based biomarkers into Alzheimer's disease clinical practice: screening, diagnosis, and longitudinal monitoring.

Frontiers in aging neuroscience·2026

Impaired liver-muscle lactate metabolism causes sarcopenia via lactic acidosis in skeletal muscle in mice.

Science advances·2026

Related Experiment Videos

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

Related Concept Videos

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Rights, respect for dignity and end-of-life care: time for a change in the concept of informed consent.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

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Unraveling the Need for standardization of Homocysteine Assay: Insights from the Results of External Quality Assurance.

Bisalbuminemia: A Rare Finding Identified via Serum Protein Agarose Gel Electrophoresis and Capillary Electrophoresis Techniques.

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Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

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