التفاصيل البيبلوغرافية
العنوان:
Tryptophan metabolism: utility of plasmatic assay in phenylketonuria, a study in 6 adult patients
المؤلفون:
Gérard Besson , Véronique Ducros , Lysiane Boulet , Patrice Faure , Christelle Corne
المصدر:
Annales de biologie clinique . 76:150-156
بيانات النشر:
John Libbey Eurotext, 2018.
سنة النشر:
2018
مصطلحات موضوعية:
Adult , Male , 0301 basic medicine , congenital, hereditary, and neonatal diseases and abnormalities , medicine.medical_specialty , Phenylalanine hydroxylase , Population , Phenylalanine , 030105 genetics & heredity , Young Adult , 03 medical and health sciences , chemistry.chemical_compound , Predictive Value of Tests , Reference Values , Tandem Mass Spectrometry , Phenylketonurias , Internal medicine , medicine , Humans , education , education.field_of_study , biology , business.industry , Tryptophan , General Medicine , Metabolism , Middle Aged , Tryptophan Metabolism , medicine.disease , Endocrinology , chemistry , Inborn error of metabolism , Case-Control Studies , Metabolome , biology.protein , Female , business , Blood Chemical Analysis , Kynurenine , Chromatography, Liquid
الوصف:
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). If untreated, the disease leads to an important intellectual disability (IQ
تدمد:
0003-3898
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d063a4cc7d1793a4751b3ab44e2271dTest https://doi.org/10.1684/abc.2018.1334Test
رقم الانضمام:
edsair.doi.dedup.....8d063a4cc7d1793a4751b3ab44e2271d
قاعدة البيانات:
OpenAIRE
