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Metabolic Disorders

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Diagnosis and Treatment of Patients With N-Acetylglutamate Synthase Deficiency: Clinician, Patient, and Caregiver Perspectives

Diagnosis and Treatment of Patients With
N-Acetylglutamate Synthase Deficiency: Clinician, Patient, and Caregiver Perspectives

The urea cycle is a biochemical pathway consisting of six enzymes and two mitochondrial transporters responsible for the elimination of excess nitrogen arising from the breakdown of protein and other...

Exploring long-term strategies for patients with propionic and methylmalonic acidurias

Exploring long-term strategies for patients with propionic and methylmalonic acidurias

Professor Sufin Yap Organic acidurias are autosomal recessively inherited metabolic disorders of enzyme deficiencies in the metabolism of amino acids resulting in the accumulation of organic acids,...

Pegvaliase▼ for phenylketonuria in the over 16s: the PRISM studies

Pegvaliase▼ for phenylketonuria in the over 16s: the PRISM studies

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Mutations in the gene encoding phenylalanine hydroxylase (PAH), the enzyme responsible for the metabolism of...

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