Results 161 to 170 of about 73,449 (206)
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MENDELIAN HYPERPHENYLALANINEMIA
Annual Review of Genetics, 1988C R, Scriver, S, Kaufman, S L, Woo
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Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
Expert Opinion on Drug Metabolism & Toxicology, 2013Phenylketonuria (PKU) is caused by mutation of the enzyme, phenylalanine (Phe) hydroxylase (PAH). The hyperphenylalaninemia characteristic of PKU causes devastating neurological damage if not identified and treated at birth with a Phe-restricted diet.
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Transient hyperphenylalaninemia
The Journal of Pediatrics, 1968S, Castells +3 more
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Hyperphenylalaninemia in the Philippines.
The Southeast Asian journal of tropical medicine and public health, 2005To present patients with hyperphenylalaninemia (HPA) diagnosed by routine newborn screening and to discuss the principles in managing hyperphenylalaninemia, retrospective clinical chart review was conducted. Newborn screening for phenylketonuria (PKU) was performed using the Guthrie Test or Bacterial Inhibition Assay, utilizing dried blood spots on ...
Sylvia, Capistrano-Estrada +1 more
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Guide for diagnosis and treatment of hyperphenylalaninemia
Pediatrics International, 2021Kimitoshi Nakamura +2 more
exaly
Nonphenylketonuric hyperphenylalaninemia.
American journal of diseases of children (1960), 1990Sixteen subjects with nonphenylketonuric hyperphenylalaninemia were followed up during a period of years. Dietary treatment did not seem to influence the outcome, and no relationship between blood phenylalanine and intellectual outcome was demonstrable.
M J, Lang, R, Koch, K, Fishler, R, Baker
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A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
Journal of Pediatric Endocrinology and Metabolism, 2023Dilek Günes
exaly