Key European guidelines for the diagnosis and management of patients with
phenylketonuria. Lancet Diabet Endocrinol 2017; 5: 743-56.
Phenylketonuria: An inborn error of phenylalanine metabolism.
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program.
Blau, "Genetics of
phenylketonuria: then and now," Human Mutation, vol.
National Institutes of Health consensus development conference statement:
Phenylketonuria: screening and management.
Furthermore, this finding could extend the mutation spectrum of PAH gene in Iranian population and provide better insight into genetic counseling of
Phenylketonuria disease.
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Phenylketonuria, Gaucher Disease, Niemann Pick Type C, Hereditary Tyrosinemia Type 1, Urea Cycle Disorders and others, Dipharma SA works to provide solutions for people affected by inborn metabolic diseases at an affordable cost and with a global reach.
Genotype and natural history in unrelated individuals with
phenylketonuria and autistic behaviour.
This article uses as a study model the rare genetic disorder
phenylketonuria (PKU), which has an incidence of 1:12,000-16,000 in Southern Brazil (7,8).
[4-6] Primary aminoaciduria is due to the enzyme defect in the metabolism of aminoacids eg.,
Phenylketonuria, Tyrosinemia and Secondary aminoaciduria is due to the defect in the aminoacid transporter in the kidney and intestine e.g.
Quality of life among parents of children with
phenylketonuria (PKU).