Tetrahydrobiopterin deficiencies: Lesson from clinical experience
نویسندگان
چکیده
منابع مشابه
Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies
Because tetrahydrobiopterin (BH4) deficiency may cause a severe but treatable disease, it became necessary to develop selective screening tests for detection early in infancy. Every newborn with even slight but persistent hyperphenylalaninemia (HPA) should be tested for BH4 deficiency. Such tests have been introduced in many developed countries, but even today older children are invariably dete...
متن کاملDiagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.
This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hyperphenylalaninemia, including tetrahydrobiopterin (BH4) deficiency. It is a product of the recent workshop organized by the European Phenylketonuria Group in March 2011 in Lisbon, Portugal. Results of the workshop demonstrate that following newborn screeni...
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ژورنال
عنوان ژورنال: JIMD Reports
سال: 2021
ISSN: 2192-8312,2192-8312
DOI: 10.1002/jmd2.12199