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Hong Kong Journal of Paediatrics, ISSN 1013-9923, 2018, Volume 23, Issue 2, pp. 169 - 172
Introduction: The aim of this study is to determine the obesity and overweight frequency in children with phenylketonuria (PKU) and hyperphenylalaninaemia... 
Obesity | Phenylketonuria | Phenylalanine restricted medical diet | Hyperphenylalaninaemia | Overweight | PEDIATRICS | PREVALENCE
Journal Article
Journal of Intellectual Disability Research, ISSN 0964-2633, 06/2013, Volume 57, Issue 6, pp. 567 - 579
Journal Article
Journal Article
Archives of Medical Science, ISSN 1734-1922, 06/2011, Volume 7, Issue 3, pp. 493 - 500
Introduction: Dietary control of classic phenylketonuria (PKU) needs restriction of natural proteins; adequate protein intake is achieved by adding low... 
Osteoporosis | Phenylketonuria | Bone mineral density | Diet | PROTEIN | PHENYLALANINE-RESTRICTED DIET | NUTRIENT INTAKE | ADULTS | osteoporosis | CHILDREN | bone mineral density | MEDICINE, GENERAL & INTERNAL | RETARDATION | OSTEOPENIA | ADOLESCENTS | GROWTH | diet | phenylketonuria | Clinical Research
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
International Journal of Adolescent Medicine and Health, ISSN 0334-0139, 04/2003, Volume 15, Issue 2, pp. 165 - 168
Journal Article
Acta Biochimica Polonica, ISSN 0001-527X, 2009, Volume 56, Issue 4, pp. 613 - 618
The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU).... 
Falls | Undiagnosed PKU | Gait | Balance | Functional independence level | undiagnosed PKU | falls | functional independence level | balance | gait | BEHAVIOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENYLALANINE-RESTRICTED DIET | PREVIOUSLY UNTREATED PHENYLKETONURIA | ADULTS
Journal Article
Critical Reviews in Clinical Laboratory Sciences, ISSN 1040-8363, 3/2009, Volume 46, Issue 2, pp. 55 - 82
Screening newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity... 
Biotinidase deficiency | positive predictive value | metabolic disorders | hypothyroidism | galactosemias | false negatives | hemoglobin disorders | congenital adrenal hyperplasia | false positives | tandem mass spectrometry | cystic fibrosis | lysosomal storage disorders | second-tier tests | specimen collection | Tandem mass spectrometry | Galactosemias | Hemoglobin disorders | Specimen collection | Cystic fibrosis | Hypothyroidism | Second-tier tests | Lysosomal storage disorders | False positives | Positive predictive value | Congenital adrenal hyperplasia | False negatives | Metabolic disorders | 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY | FAST ATOM BOMBARDMENT | PHENYLALANINE-RESTRICTED DIET | DIRECT MULTIPLEX ASSAY | DRIED BLOOD SPOTS | SICKLE-CELL-ANEMIA | COA DEHYDROGENASE-DEFICIENCY | TANDEM MASS-SPECTROMETRY | INBORN-ERRORS | CYSTIC-FIBROSIS | MEDICAL LABORATORY TECHNOLOGY | Adrenal Hyperplasia, Congenital - prevention & control | Blood Chemical Analysis | Humans | Lysosomal Storage Diseases - prevention & control | Glucosephosphate Dehydrogenase Deficiency - prevention & control | Amino Acid Metabolism, Inborn Errors - diagnosis | Glucosephosphate Dehydrogenase Deficiency - diagnosis | Lysosomal Storage Diseases - diagnosis | Cystic Fibrosis - prevention & control | Adrenal Hyperplasia, Congenital - diagnosis | Infection - diagnosis | Sensitivity and Specificity | Hypothyroidism - prevention & control | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Metabolism, Inborn Errors - prevention & control | Amino Acid Metabolism, Inborn Errors - prevention & control | Hypothyroidism - diagnosis | Neonatal Screening - methods | Infection - congenital | Metabolism, Inborn Errors - diagnosis | Genetic Diseases, Inborn - prevention & control | Hemoglobinopathies - diagnosis | Cystic Fibrosis - diagnosis | Paper | Hemoglobinopathies - prevention & control
Journal Article