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1. The clinical team looks at phenylketonuria
: problems of the disease from the viewpoint of the biochemist, pediatrician, medical social worker, public health nurse, psychologist and nutritionist
United States Children's Bureau
1964, Rev., 56
Phenylketonuria
Book
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2. Tetrahydrobiopterin
: basic biochemistry and role in human disease
by Kaufman, Seymour
1997, ISBN 9780801853449, viii, 420
Phenylketonuria | Chemotherapy | Pathophysiology | Tetrahydrobiopterin
Book
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3. Full Text Pegvaliase for phenylketonuria
WHO Drug Information, ISSN 1010-9609, 04/2018, Volume 32, Issue 2, pp. 215 - 215
Phenylketonuria
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4. Full Text Phenylalanine hydroxylase deficiency
by Mitchell, John J and Trakadis, Yannis J and Scriver, Charles R
Genetics in Medicine, ISSN 1098-3600, 08/2011, Volume 13, Issue 8, pp. 697 - 707
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid... 
phenylketonuria | hyperphenylalaninemia | PAH deficiency | IN-VITRO EXPRESSION | EARLY-TREATED PHENYLKETONURIA | CLASSICAL PHENYLKETONURIA | GENOTYPE-PHENOTYPE CORRELATIONS | BONE-MINERAL DENSITY | ANTICIPATES DIETARY REQUIREMENTS | NEUTRAL AMINO-ACIDS | GENETICS & HEREDITY | TETRAHYDROBIOPTERIN-RESPONSIVE PHENYLKETONURIA | MATERNAL PHENYLKETONURIA | LONG-TERM TREATMENT | Phenylalanine Hydroxylase - genetics | Diagnosis, Differential | Phenylketonurias - diagnosis | Genetic Testing | Genetic Association Studies | Phenylketonurias - genetics | Humans | Phenylalanine Hydroxylase - deficiency | Clinical Trials as Topic | Phenylketonurias - therapy | Animals | DNA Mutational Analysis | Phenylalanine - blood | Mutation
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5. Full Text Key European guidelines for the diagnosis and management of patients with phenylketonuria
by van Spronsen, Francjan J, Prof and van Wegberg, Annemiek MJ, MSc and Ahring, Kirsten, MSc and Bélanger-Quintana, Amaya, MD and Blau, Nenad, Prof and Bosch, Annet M, MD and Burlina, Alberto, MD and Campistol, Jaime, Prof and Feillet, Francois, Prof and Giżewska, Maria, MD and Huijbregts, Stephan C, PhD and Kearney, Shauna, MSc and Leuzzi, Vincenzo, Prof and Maillot, Francois, MD and Muntau, Ania C, Prof and Trefz, Fritz K, Prof and van Rijn, Margreet, PhD and Walter, John H, Prof and MacDonald, Anita, Prof
Lancet Diabetes & Endocrinology, The, ISSN 2213-8587, 2017, Volume 5, Issue 9, pp. 743 - 756
Summary We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and... 
Endocrinology & Metabolism | Other | LONG-TERM | INTERNATIONAL SURVEY | SERUM PHENYLALANINE | BLOOD PHENYLALANINE | PLASMA PHENYLALANINE | PHENYLALANINE-RESTRICTED DIET | ENDOCRINOLOGY & METABOLISM | QUALITY-OF-LIFE | MATERNAL PHENYLKETONURIA | CONTINUOUSLY TREATED PHENYLKETONURIA | MILD HYPERPHENYLALANINEMIA | Phenylketonurias - blood | Phenylketonurias - diagnosis | Delphi Technique | Phenylketonurias - diet therapy | Europe | Humans | Phenylalanine - blood | Disease Management | Biopterin - analogs & derivatives | Biopterin - administration & dosage | Phenylketonuria | Care and treatment | Diagnosis
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6. Full Text Phenylketonuria
by Blau, Nenad, Prof and van Spronsen, Francjan J, MD and Levy, Harvey L, Prof
Lancet, The, ISSN 0140-6736, 2010, Volume 376, Issue 9750, pp. 1417 - 1427
Summary Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine... 
Internal Medicine | EARLY-TREATED PHENYLKETONURIA | ADULT PATIENTS | MEDICINE, GENERAL & INTERNAL | GTP CYCLOHYDROLASE-I | BLOOD PHENYLALANINE | SAPROPTERIN DIHYDROCHLORIDE | NUTRITIONAL MANAGEMENT | QUALITY-OF-LIFE | NEWBORN SCREENING-PROGRAM | NEUTRAL AMINO-ACIDS | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Intellectual Disability - prevention & control | Phenylketonurias - therapy | Pregnancy | Phenylketonurias - diagnosis | Pregnancy Complications - diet therapy | Humans | Phenylketonurias - prevention & control | Female | Phenylketonurias - complications | Intellectual Disability - etiology | Neonatal Screening | Infant, Newborn | Development and progression | Phenylketonuria | Care and treatment | Diagnosis | Enzymes | Ammonia | Brain | Biosynthesis | Mutation | Mass spectrometry
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7. Phenylketonuria, a selected bibliography, 1963 [prepared by Gladys M. Krueger, program analyst, Children's Bureau.]
by Krueger, Gladys M, 1916 and United States Children's Bureau
1964, 74
Phenylketonuria | Bibliography
Book
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8. Full Text The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study
by Mastrangelo, Mario and Chiarotti, Flavia and Berillo, Luana and Caputi, Caterina and Carducci, Claudia and Di Biasi, Claudio and Manti, Filippo and Nardecchia, Francesca and Leuzzi, Vincenzo
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2015, Volume 116, Issue 3, pp. 171 - 177
Pathogenesis and clinical consequences of white matter abnormalities on magnetic resonance imaging (MRI) in phenylketonuric (PKU) patients are incompletely... 
magnetic resonance | intellectual quotient | phenylketonuria | intellectual outcome in phenylketonuria | white matter outcome in phenylketonuria | Intellectual outcome in phenylketonuria | Phenylketonuria | Intellectual quotient | Magnetic resonance | White matter outcome in phenylketonuria | MEDICINE, RESEARCH & EXPERIMENTAL | MRI | EXECUTIVE ABILITIES | PHENYLALANINE LEVELS | STATE | INDIVIDUALS | HYPERPHENYLALANINEMIA | INTEGRITY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | YOUNG-ADULT | BRAIN | Follow-Up Studies | Humans | Male | Intelligence Tests | White Matter - pathology | Phenylketonurias - therapy | Young Adult | Magnetic Resonance Imaging | Phenylketonurias - blood | Adolescent | Aging | Adult | Female | Phenylalanine - blood | Retrospective Studies | Phenylketonurias - pathology | Child | Longitudinal Studies | Medicine, Experimental | Medical research
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9. Full Text Phenylalanine hydroxylase deficiency: Diagnosis and management guideline
by Vockley, Jerry and Andersson, Hans C and Antshel, Kevin M and Braverman, Nancy E and Burton, Barbara K and Frazier, Dianne M and Mitchell, John and Smith, Wendy E and Thompson, Barry H and Berry, Susan A and Amer Coll Med Genetics and Genomics Therapeutic Comm and American College of Medical Genetics and Genomics Therapeutics Committee and the American College of Medical Genetics and Genomics Therapeutic Committee
Genetics in Medicine, ISSN 1098-3600, 2014, Volume 16, Issue 2, pp. 188 - 200
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals... 
phenylalanine hydroxylase deficiency | maternal PKU | phenylketonuria | therapy | sapropterin | MUTATION ANALYSIS | EARLY-TREATED PHENYLKETONURIA | ADULT PATIENTS | SAPROPTERIN DIHYDROCHLORIDE | ANTICIPATES DIETARY REQUIREMENTS | TANDEM MASS-SPECTROMETRY | EXECUTIVE FUNCTION | ELEVATED LEVELS | GENETICS & HEREDITY | QUALITY-OF-LIFE | MATERNAL PHENYLKETONURIA | Phenylketonurias - therapy | Phenylketonurias - diagnosis | United States | Biopterin - therapeutic use | Humans | Child, Preschool | Infant | Phenylalanine - blood | Combined Modality Therapy | Biopterin - analogs & derivatives | Infant, Newborn | Index Medicus
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10. Phenylketonuria in Estonia
: incidence, newborn screening, diagnosis, clinical characterization and genotype/phenotype correlation
by Õunap, Katrin and Tartu Ülikool
1999, Dissertationes medicinae Universitatis Tartuensis, ISBN 9985564073, Volume 55.
Dissertation
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11. Full Text Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
by Zurflüh, Marcel R and Zschocke, Johannes and Lindner, Martin and Feillet, François and Chery, Céline and Burlina, Alberto and Stevens, Raymond C and Thöny, Beat and Blau, Nenad
Human Mutation, ISSN 1059-7794, 01/2008, Volume 29, Issue 1, pp. 167 - 175
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been... 
PKU | phenylketonuria | hyperphenylalaninemia | PAH | BH4 | Phenylketonuria | Hyperphenylalaninemia | GENOTYPE-PHENOTYPE CORRELATIONS | MILD PHENYLKETONURIA | BH4 RESPONSIVENESS | PHENYLKETONURIA MUTATIONS | IN-VIVO | HYPOTHESIS | GENETICS & HEREDITY | EXPRESSION | Phenylalanine Hydroxylase - genetics | Genetics, Population | Phenylketonurias - genetics | Europe | Gene Frequency | Humans | Phenylalanine Hydroxylase - deficiency | Models, Molecular | Genotype | Biopterin - analogs & derivatives | Biopterin - metabolism | Gene Expression Regulation, Enzymologic | Biopterin - therapeutic use | China | Phenylketonurias - metabolism | Mutation | Korea | Phenylketonurias - drug therapy
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12. Full Text Challenges and pitfalls in the management of phenylketonuria
by Feillet, François and Van Spronsen, Francjan J and MacDonald, Anita and Trefz, Friedrich K and Demirkol, Mübeccel and Giovannini, Marcello and Bélanger-Quintana, Amaya and Blau, Nenad
Pediatrics, ISSN 0031-4005, 08/2010, Volume 126, Issue 2, pp. 333 - 341
Despite recent advances in the management of phenylketonuria and hyperphenylalaninemia, important questions on the management of this disorder remain... 
Sapropterin | Blood-brain barrier | Phenylalanine | Tetrahydrobiopterin | Optimal and consistent care | PKU | Cognitive function | Hyperphenylalaninemia | blood-brain barrier | cognitive function | EARLY-TREATED PHENYLKETONURIA | MOLECULAR-GENETICS | tetrahydrobiopterin | DIETARY-MANAGEMENT | phenylalanine | NUTRITIONAL MANAGEMENT | hyperphenylalaninemia | optimal and consistent care | NEUTRAL AMINO-ACIDS | CLASSIC PHENYLKETONURIA | BLOOD PHENYLALANINE | TYROSINE SUPPLEMENTATION | PEDIATRICS | MATERNAL PHENYLKETONURIA | sapropterin | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Humans | Phenylketonurias - epidemiology | Growth Disorders - blood | Neonatal Screening | Biopterin - analogs & derivatives | Consensus | Brain - metabolism | Neuropsychological Tests | Cognition Disorders - diagnosis | Phenylketonurias - blood | Biopterin - therapeutic use | Treatment Failure | Growth Disorders - epidemiology | Phenylalanine - blood | Cognition Disorders - epidemiology | Infant, Newborn | Phenylketonurias - drug therapy | Measurement | Infants (Newborn) | Phenylketonuria | Care and treatment | Medical examination | Physiological aspects | Standards | Pediatrics | Amino acids | Genetic disorders | Newborn babies | Medical screening | Blood tests
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13. Full Text National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management, October 16-18, 2000
by National Institutes of Health Consensus Development Panel and NIH Consensus Dev Panel and National Institutes of Health Consensus Development Panel
Pediatrics, ISSN 0031-4005, 10/2001, Volume 108, Issue 4, pp. 972 - 982
Objective. To provide health care providers, patients, and the general public with a responsible assessment of currently available data regarding screening for... 
YOUNG-ADULTS | NEUROLOGICAL DETERIORATION | GENOTYPE | PERFORMANCE | CHILDREN | phenylketonuria screening | INTELLIGENCE | hyperphenylalanimea | DIETARY-TREATMENT | phenylalanine monitoring | maternal phenylketonuria | PEDIATRICS | phenylalanine-restricted diet | phenylketonuria | TREATED HYPERPHENYLALANINEMIA | newborn screening | PHENYLALANINE-HYDROXYLASE DEFICIENCY | phenylketonuria outcomes | Phenylketonurias - therapy | Phenylketonurias - diagnosis | Genetic Testing | Prevalence | Humans | Adult | Phenylketonurias - epidemiology | Child | Incidence | Practice guidelines (Medicine) | Reports | Phenylketonuria | Analysis | Genetics | Medical screening | Medical disorders | Mental retardation
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14. Full Text Genetics of Phenylketonuria: Then and Now
by Blau, Nenad
Human Mutation, ISSN 1059-7794, 06/2016, Volume 37, Issue 6, pp. 508 - 515
ABSTRACT More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in people with phenylketonuria (PKU). These vary in their... 
tetrahydrobiopterin | phenylalanine hydroxylase | PAH | PKU | phenylketonuria | hyperphenylalaninaemia | sapropterin | Sapropterin | Phenylketonuria | Phenylalanine hydroxylase | Tetrahydrobiopterin | Hyperphenylalaninaemia | IN-VITRO EXPRESSION | GENOTYPE-PHENOTYPE CORRELATIONS | MILD PHENYLKETONURIA | PHARMACOLOGICAL CHAPERONES | STRUCTURAL-CHARACTERIZATION | DIHYDROPTERIDINE REDUCTASE DEFICIENCY | GENETICS & HEREDITY | LOCUS-SPECIFIC KNOWLEDGEBASE | TETRAHYDROBIOPTERIN DEFICIENCY | INTERALLELIC COMPLEMENTATION | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Phenylalanine Hydroxylase - genetics | Phenotype | History, 21st Century | Phenylketonurias - genetics | Phenylketonurias - history | History, 20th Century | Humans | Phenylketonurias - metabolism | Mutation | Biopterin - analogs & derivatives | Phenylalanine Hydroxylase - metabolism | Biopterin - metabolism | Genetic aspects | Hydroxylases | Phenylalanine | Gene mutations | Genotype & phenotype | Amino acids | Genetic disorders
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