Klinické studie
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Nalezeno 6 záznamů z celkového počtu 6, zobrazeny 1. - 6.
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Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a Tertiary Care Hospital in Karachi
To study the prevalence of selected disorders of inborn errors of metabolism at a tertiary care hospital in Karachi by performing selective screening of high risk clinically suspected individuals.
Classical maple syrup urine disease and brain development: Principles of management and formula design.
Branched‐chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain development.
Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.
We report on a 4.5‐year‐old patient diagnosed with Glutaric aciduria type I (GAI), an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism.
The rehabilitation programme of an adult phenylketonuria with upper motor neuron involvement.
Phenylketonuria (PKU) is a disorder characterized by several biochemical mechanisms which may impair the brain functions in PKU, leading to neurological problems.
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU
Phenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation due to defects in the enzyme phenylalanine hydroxylase (PAH).
Dietary interventions for phenylketonuria.
Phenylketonuria is an inherited disease treated with dietary restriction of the amino acid phenylalanine. The diet is initiated in the neonatal period to prevent mental handicap; however, it is restrictive and can be difficult to follow.
Klinické studie
Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a Tertiary Care Hospital in Karachi
To study the prevalence of selected disorders of inborn errors of metabolism at a tertiary care hospital in Karachi by performing selective screening of high risk clinically suspected individuals.
Kalendář akcí
Materiály ke stažení
Metabolický bulletin, 43. - 52. týden 2011
Literární výběr klinických studií a abstraktů: Maternal Phenylketonuria and Hyperphenylalaninemia in Pregnancy: Pregnancy Complications and Neonatal Sequelae in Untreated and Treated Pregnancies
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