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Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 580 - 590
Purpose: The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria... 
Locus-specific database | PKU | Tetrahydrobiopterin | Genotype–phenotype prediction | MOLECULAR-GENETICS | DIAGNOSIS | EXPRESSION ANALYSIS | HYPERPHENYLALANINEMIA | Genotype-phenotype prediction | GENETICS & HEREDITY | MUTATIONS | PHENYLALANINE-HYDROXYLASE DEFICIENCY
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
Journal Article
Pediatrics, ISSN 0031-4005, 08/2010, Volume 126, Issue 2, pp. 333 - 341
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 01/2015, Volume 174, Issue 1, pp. 119 - 127
Phenylketonuria (PKU) is no longer considered merely a pediatric concern; current guidelines recommend life-long treatment. However, information on the adult... 
DIAGNOSIS | Phenylketonuria | Survey | Phenylalanine | Diet | Adults | QUALITY-OF-LIFE | PKU | GUIDELINE | Pediatrics | Medicine & Public Health | PEDIATRICS | Phenylketonurias - therapy | Phenylketonurias - blood | Health Personnel | Humans | Adult | Phenylalanine - blood | Surveys and Questionnaires | Practice Patterns, Physicians | Health Care Surveys | Surveys | Life Sciences
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 02/2016, Volume 175, Issue 2, pp. 261 - 272
To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A... 
ADULT PATIENTS | Phenylketonuria | Questionnaire | NEWBORN | BEHAVIOR | PHENYLALANINE-RESTRICTED DIET | STATE | Management | CARE | Screening | Survey | Tetrahydrobiopterin | UNTREATED PHENYLKETONURIA | Diagnosis | PKU | Sapropterin dihydrochloride | Pediatrics | Medicine & Public Health | PEDIATRICS | Surveys | Management techniques | Phenylalanine | Life Sciences | Original
Journal Article
Pediatrics, ISSN 0031-4005, 12/2003, Volume 112, Issue 6, p. 1566
  Trefz and Blau evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria... 
Women | Pregnancy | Diet | Medical treatment | Medical disorders
Journal Article
Human Mutation, ISSN 1059-7794, 2010, Volume 31, Issue 4, pp. 380 - 390
Journal Article