phenylalanine and Maternal Phenylalanine Hydroxylase Deficiency Disease

phenylalanine has been researched along with Maternal Phenylalanine Hydroxylase Deficiency Disease in 82 studies

Research

Studies (82)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	23 (28.05)	18.2507
2000's	31 (37.80)	29.6817
2010's	15 (18.29)	24.3611
2020's	13 (15.85)	2.80

Authors

Authors	Studies
Ascherl, RG; Baerwald, C; Beblo, S; Heller, C; Joerg-Streller, M; Joos, O; Jung, A; Lier, D; Luttat, S; Matzgen, S; Och, U; Rohde, C; Rosenbaum-Fabian, S; Schönherr, K; Thiele, AG; Winkler, T	1
Kim, J; Kim, KH; Kim, SK; Ko, JM; Lee, J; Lee, JY; Lee, S; Mook-Jung, I; Park, JC; Park, SH	1
Baerwald, CGO; Beblo, S; Burgard, P; Das, A; Dokoupil, K; Fleissner, S; Freisinger, P; Garbade, SF; Gleich, F; Grohmann-Held, K; Heddrich-Ellerbrok, M; Jung, A; Kölker, S; Korpel, V; Krämer, J; Lier, D; Maier, EM; Meyer, U; Mühlhausen, C; Mütze, U; Newger, M; Och, U; Plöckinger, U; Rosenbaum-Fabian, S; Rutsch, F; Santer, R; Schick, P; Schwarz, M; Spiekerkötter, U; Strittmatter, U; Thiele, AG; Vom Dahl, S; Ziagaki, A	1
Ahring, K; Jørgensen, C; Lund, AM; Nielsen, MR; Ørngreen, MC	1
Longo, N; Rovelli, V	1
Adams, AD; Demarest, OM; Fiesco-Roa, MÓ; Hobert, JA; Jenkins, GP; Malinowski, J; Rothberg, PG; Wong, L	1
Chen, Z; Han, B; He, C; Hui, Q; Li, X; Shen, M; Wang, K; Wang, L; Ye, F; Zou, H	1
Baronio, F; Bettocchi, I; Brodosi, L; Caletti, MT; Cassio, A; Cataldi, S; Marchesini, G; Petroni, ML	1
Chyż, K; Hozyasz, KK; Żółkowska, J	1
Arnold, GL; DeLuca, J; Lowe, TB	1
Endo, F; Ida, H; Ito, T; Kure, S; Matsubara, Y; Matuo, M; Nakamura, K; Ohura, T; Okano, Y; Okuyama, T; Owada, M; Shintaku, H; Takayanagi, M; Yoshino, M	1
Arai-Ichinoi, N; Kure, S; Murayama, K; Sakamoto, O	1
Seagraves, NJ; Watson, JN	1
Bartholomew, D; McBride, KL; Pluciniczak, J; Rhyand, T	1
Hamosh, A; Hoover-Fong, J; Koerner, C; Martino, T; Yenokyan, G	1
Bókay, J; Kiss, E; Simon, E; Szőnyi, L	1
Arning, E; Azen, C; Bottiglieri, T; Moseley, K; Yano, S	1
Burton, BK; Cohen-Pfeffer, JL; Fong, CT; Grange, DK; Hillman, RE; Hunt, J; Mahoney, JJ; Vockley, J; Yano, S	1
Debray, FG; Feillet, F; Fofou-Caillierez, MB; Lotz-Havla, AS; Muntau, AC; Puchwein-Schwepcke, A; Trefz, FF; van Spronsen, F	1
Murphy, E	1
de Parscau, L; Teissier, R	1
Baudin, J; Lee, PJ; Lilburn, M; Maillot, F; Morley, DW	1
Ellerbrok, M; Kohlschütter, B; Merkel, M; Santer, R; Tchirikov, M; Ullrich, K; Zschocke, J	1
Didycz, B; Lemańska, D; Słuszniak, A	1
Jamroz, E; Marszał, E; Paprocka, J; Wiktor, M	1
Harada, N; Ohira, T; Watanabe, Y; Yoshino, M	1
Akar, M; Altug, N; Dilmen, U; Erdeve, O; Gokmen, T; Oguz, SS	1
Carpenter, RH; Chan, H; Dawson, C; Ellerton, C; Lachmann, RH; Maritz, C; Murphy, E	1
Duvekot, JJ; Hop, WC; Prick, BW	1
Assoun, M; Cano, A; de Parscau, L; Feillet, F; Fouilhoux, A; Mention, K; Nowak, E; Oger, E; Ogier, H; Teissier, R	1
McBride, KL; Seagraves, NJ	1
Gurry, D; Ng, TW; Rae, A; Wray, J; Wright, H	1
Azen, C; de la Cruz, F; Friedman, EG; Güttler, F; Hanley, W; Koch, R; Levy, H; Matalon, K; Matalon, R; Ning, J; Platt, L; Rouse, B; Trefz, F; Waisbren, S; Widaman, K	1
Azen, C; de la Cruz, F; Guldberg, P; Güttler, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Romstad, A; Rouse, BM; Trefz, F	1
Acosta, PB; Azen, C; Matalon, KM	1
Azen, C; Widaman, KF	1
Azen, C; Waisbren, SE	1
Azen, CG; de la Cruz, F; Güttler, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Rouse, B; Trefz, FK; Waisbren, SE	1
Baudin, J; Lee, PJ; Lilburn, M	1
Blau, N; Trefz, FK	1
Azen, C; Rouse, B	1
Calvin, J; Hogg, SL; Reading, R; Shaw-Smith, C; Trump, D	1
Cockburn, F; Lee, PJ; Ridout, D; Walter, JH	1
Guttler, F; Koch, R; Moseley, K	1
Gilles, FH; Koch, R; Verma, S	1
Azen, C; de la Cruz, F; Friedman, EG; Güttler, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Rouse, B; Trefz, F	1
Allen, RJ; Brunberg, J; Jackson, G; Schaefer, AM; Schwartz, E	1
Azen, C; Hanley, W; Koch, R; Levy, HL; Matalon, R; Rouse, B	1
Bendl, J; Dolezal, A; Hyánek, J; Kozich, V; Kubík, M; Soukup, K; St'astná, S; Viletová, H; Zeman, J	1
Acosta, PB; Austin, V; Azen, C; Castiglioni, L; Michals, K; Rohr, F; Wenz, E	1
Brenton, DP; Lilburn, M	1
Bailey, I; Brown, T; Rohr, F; Rokni, H; Waisbren, SE; Warner-Rogers, J	1
Azen, C; de la Cruz, F; Friedman, E; Hanley, W; Koch, R; Matalon, R; Rouse, B; Shifrin, H; Trefz, F	1
Allred, E; Azen, C; Chang, P; de la Cruz, F; Hanley, W; Koch, R; Levy, HL; Matalon, R; Rouse, B; Shifrin, H; Waisbren, SE	1
Baldellou Vázquez, A; García Vera, C; Gracia Romero, J; Pérez-González, J; Ventura Faci, P	1
Guldberg, P; Güttler, F; Koch, R; Rouse, B	1
Owada, M	2
Holbrook, IB; Wilkinson, H	1
Bosco, P; Calì, F; Cammarata, M; Ciaccio, M; Corsello, G; Greco, D; Piccione, M; Romano, V	1
Bachman, RP; Buist, N; Geraghty, MT; Hanley, WB; Isaacs, J; O'Flynn, ME; Platt, LD; Rhead, WJ; Seidlitz, G; Tishler, B	1
Hayden, MC; Mowat, DR; Thompson, SM; Wilcken, B	1
Kesby, G	1
Duran, GP; Güttler, F; Levy, HL; Rohr, FJ; Slonim, A	1
de Sonneville, LM; de Valk, HW; Duran, M; Erkelens, DW; Poll-The, BT	1
Azen, C; de la Cruz, F; Friedman, EG; Güttler, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Platt, LD; Rouse, B; Trefz, F	1
Fox, C; Kipp, DE; Marquis, J	1
Costa, LG; Guizzetti, M; Oberdoerster, J	1
Acosta, P; Azen, C; de la Cruz, F; Friedman, E; Güttler, F; Hanley, W; Koch, R; Levy, H; Matalon, R; Michals-Matalon, K; Platt, L; Rouse, B; Trefz, F; Ullrich, K; Waisbren, S	1
Lee, PJ	1
Huszagh, VA; Infante, JP	1
Acosta, PB; Austin, V; Azen, C; Castiglioni, L; Matalon, K; Rohr, FJ; Wenz, E	1
Abadie, V; Bresson, JL; Depondt, E; Vidailhet, M	1
Bianchi, N; Boulat, O; Matthieu, JM	1
Cho, S; McDonald, JD	1
Farriaux, JP; Frézal, J	1
Azen, C; de la Cruz, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Platt, LD; Rouse, B; Walla, CA	1
Compton, R; Francis, DE; Kirby, DM; Thompson, GN	1

Reviews

14 review(s) available for phenylalanine and Maternal Phenylalanine Hydroxylase Deficiency Disease

Article	Year
Phenylketonuria and the brain. Molecular genetics and metabolism, 2023, Volume: 139, Issue:1 Topics: Animals; Brain; Child; Female; Humans; Microcephaly; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2023
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 2023, Volume: 25, Issue:9 Topics: Female; Genetics, Medical; Genomics; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; United States	2023
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe. Orphanet journal of rare diseases, 2020, 09-25, Volume: 15, Issue:1 Topics: Adolescent; Adult; Diet; Europe; Female; Genomics; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; United States	2020
[Maternal phenylketonuria]. Orvosi hetilap, 2013, May-05, Volume: 154, Issue:18 Topics: Adult; Biomarkers; Female; Humans; Hungary; Infant, Newborn; Male; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy	2013
Medical Problems in Obstetrics: Inherited Metabolic Disease. Best practice & research. Clinical obstetrics & gynaecology, 2015, Volume: 29, Issue:5 Topics: Abortion, Spontaneous; Breast Feeding; Developmental Disabilities; Female; Galactosemias; Humans; Infertility, Female; Metabolism, Inborn Errors; Nausea; Phenylalanine; Phenylketonuria, Maternal; Postnatal Care; Preconception Care; Pregnancy; Pregnancy Complications; Teratogenesis; Vomiting	2015
[Phenylketonuria--toward a better carry-over care]. Nihon rinsho. Japanese journal of clinical medicine, 2010, Volume: 68, Issue:1 Topics: Adolescent; Adult; Amino Acids, Neutral; Biopterins; Continuity of Patient Care; Diet Therapy; Female; Humans; Infant, Newborn; Insurance, Life; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors; Young Adult	2010
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. The American journal of clinical nutrition, 2012, Volume: 95, Issue:2 Topics: Congenital Abnormalities; Developmental Disabilities; Facial Bones; Female; Humans; Infant, Newborn; Infant, Small for Gestational Age; Intellectual Disability; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pregnancy Trimesters; Skull	2012
MRI characterization of cerebral dysgenesis in maternal PKU. Acta paediatrica (Oslo, Norway : 1992). Supplement, 1994, Volume: 407 Topics: Abnormalities, Multiple; Brain; Female; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	1994
[Maternal phenylketonuria]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prognosis	1998
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. American journal of obstetrics and gynecology, 1999, Volume: 180, Issue:4 Topics: Adolescent; Adult; Female; Fetal Diseases; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Retrospective Studies	1999
[Phenylketonuria: a children's disease in adulthood]. Nederlands tijdschrift voor geneeskunde, 2000, Jan-01, Volume: 144, Issue:1 Topics: Adult; Child; Congenital Abnormalities; Female; Humans; Male; Mental Disorders; Netherlands; Neuropsychological Tests; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2000
[Maternal PKU fetal effects]. Ryoikibetsu shokogun shirizu, 2000, Issue:30 Pt 5 Topics: Abnormalities, Multiple; Diet; Female; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Exposure Delayed Effects; Prognosis; Syndrome	2000
Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria. Molecular genetics and metabolism, 2001, Volume: 72, Issue:3 Topics: Adult; Animals; Arachidonic Acid; Brain; Brain Diseases, Metabolic; Child; Disease Models, Animal; Docosahexaenoic Acids; Female; Humans; Infant; Infant, Newborn; Male; Mice; Mitochondria; Models, Biological; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2001
[Phenylketonuria yesterday and today. Evaluation of the work of systematic neonatal screening]. La Revue du praticien, 1992, Nov-15, Volume: 42, Issue:18 Topics: Female; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	1992

Trials

3 trial(s) available for phenylalanine and Maternal Phenylalanine Hydroxylase Deficiency Disease

Article	Year
The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Analysis of Variance; Birth Weight; Child; Child, Preschool; Embryonic and Fetal Development; Female; Humans; Infant, Newborn; Intelligence; Logistic Models; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Prenatal Care; Statistics, Nonparametric	2003
The international collaborative study of maternal phenylketonuria: status report 1994. Acta paediatrica (Oslo, Norway : 1992). Supplement, 1994, Volume: 407 Topics: Adult; Case-Control Studies; Female; Humans; International Cooperation; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Prospective Studies	1994
The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. American journal of diseases of children (1960), 1993, Volume: 147, Issue:11 Topics: Adolescent; Adult; Anthropometry; Energy Intake; Female; Fetal Diseases; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence Tests; Morbidity; Neonatal Screening; North America; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prospective Studies	1993

Other Studies

65 other study(ies) available for phenylalanine and Maternal Phenylalanine Hydroxylase Deficiency Disease

Article	Year
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Orphanet journal of rare diseases, 2021, 11-18, Volume: 16, Issue:1 Topics: Adult; Austria; Female; Germany; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Syndrome	2021
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids. Molecular genetics and metabolism, 2022, Volume: 136, Issue:2 Topics: Female; Humans; Induced Pluripotent Stem Cells; Microcephaly; Organoids; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:6 Topics: Child; Child Behavior; Diet; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Retrospective Studies; Syndrome	2022
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:4 Topics: Birth Weight; Child; Diet; Family; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2023
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802. Obstetrics and gynecology, 2020, Volume: 135, Issue:4 Topics: Family Planning Services; Female; Genetic Counseling; Humans; Infant, Newborn; Neonatal Screening; Obstetrics; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Care; Societies, Medical; United States	2020
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802. Obstetrics and gynecology, 2020, Volume: 135, Issue:4 Topics: Family Planning Services; Female; Genetic Counseling; Humans; Infant, Newborn; Neonatal Screening; Obstetrics; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Care; Societies, Medical; United States	2020
The first study of successful pregnancies in Chinese patients with Phenylketonuria. BMC pregnancy and childbirth, 2020, Apr-28, Volume: 20, Issue:1 Topics: Adult; Biopterins; China; Diet; Disease Management; Female; Humans; Infant, Newborn; Maternal Nutritional Physiological Phenomena; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult	2020
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background. Nutrition, metabolism, and cardiovascular diseases : NMCD, 2020, 06-09, Volume: 30, Issue:6 Topics: Adult; Diet, Protein-Restricted; Female; Fetal Growth Retardation; Genetic Predisposition to Disease; Gestational Weight Gain; Heart Defects, Congenital; Humans; Live Birth; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Risk Factors; Solitary Kidney; Treatment Outcome; Young Adult	2020
Comparison of phenylalanine tolerance in singleton and twin pregnancies in patients with phenylketonuria. The Journal of international medical research, 2020, Volume: 48, Issue:9 Topics: Diet; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy, Twin	2020
Guide for diagnosis and treatment of hyperphenylalaninemia. Pediatrics international : official journal of the Japan Pediatric Society, 2021, Volume: 63, Issue:1 Topics: Biopterins; Female; Humans; Japan; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2021
Successful control of maternal phenylketonuria by tetrahydrobiopterin. Pediatrics international : official journal of the Japan Pediatric Society, 2018, Volume: 60, Issue:10 Topics: Adult; Biopterins; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	2018
RNA-Seq analysis in an avian model of maternal phenylketonuria. Molecular genetics and metabolism, 2019, Volume: 126, Issue:1 Topics: Animals; Chickens; Disease Models, Animal; Female; Heart Defects, Congenital; Metabolic Networks and Pathways; Phenotype; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Sequence Analysis, RNA; Transcriptome; Tretinoin; Zygote	2019
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women. Genetics in medicine : official journal of the American College of Medical Genetics, 2019, Volume: 21, Issue:8 Topics: Dried Blood Spot Testing; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Reference Values; Tandem Mass Spectrometry; Tyrosine; Young Adult	2019
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. Molecular genetics and metabolism, 2013, Volume: 109, Issue:1 Topics: Adult; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications; Retrospective Studies	2013
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1 Topics: Amino Acids; Body Weight; Dietary Proteins; Female; Folic Acid; Heart Defects, Congenital; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pregnancy Trimester, First; Registries; Risk Factors; Weight Gain	2014
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Molecular genetics and metabolism, 2014, Volume: 112, Issue:1 Topics: Abortion, Spontaneous; Adult; Biopterins; Female; Humans; Obstetric Labor, Premature; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Young Adult	2014
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:5 Topics: Adult; Biopterins; Europe; Female; Fetal Blood; Genotype; Humans; Infant, Newborn; Nutritional Status; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pterins	2014
[Maternal phenylketonuria: the challenge of the second generation]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008, Volume: 15, Issue:5 Topics: Craniofacial Abnormalities; Female; France; Humans; Infant, Newborn; Musculoskeletal Abnormalities; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Psychomotor Disorders	2008
Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. The American journal of clinical nutrition, 2008, Volume: 88, Issue:3 Topics: Body Weight; Developmental Disabilities; Female; Humans; Infant, Newborn; Learning Disabilities; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Retrospective Studies; Treatment Outcome	2008
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Adult; Birth Weight; Female; Fetus; Genotype; Heterozygote; Homozygote; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Weight Gain	2009
[Did the change of technique of screening investigations influence on improvement of test credibility in recognizing and differentiating diagnostics of hiperphenylalaninemias?]. Przeglad lekarski, 2009, Volume: 66, Issue:1-2 Topics: Adult; Colorimetry; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Poland; Pregnancy; Prevalence	2009
Maternal phenylketonuria. Wiadomosci lekarskie (Warsaw, Poland : 1960), 2009, Volume: 62, Issue:1 Topics: Child; Epilepsy; Female; Humans; Infant; Male; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects	2009
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. Journal of tropical pediatrics, 2011, Volume: 57, Issue:2 Topics: Congenital Abnormalities; Diagnosis, Differential; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Kidney; Kidney Diseases; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Radionuclide Imaging; Syndrome; Tomography, X-Ray Computed; Ultrasonography; Young Adult	2011
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2 Topics: Adult; Case-Control Studies; Cognition; Diet; Female; Humans; Male; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy; Quality of Life; Reaction Time; Saccades	2011
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Diet, Protein-Restricted; Female; Fetal Growth Retardation; France; Humans; Infant, Newborn; Phenylalanine; Phenylketonuria, Maternal; Practice Guidelines as Topic; Pregnancy; Pregnancy Outcome; Retrospective Studies; Risk Factors	2012
Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences. Molecular genetics and metabolism, 2012, Volume: 107, Issue:4 Topics: Abnormalities, Multiple; Animals; Disease Models, Animal; Female; Genetic Association Studies; Heart Defects, Congenital; Heart Valves; Humans; Male; Mice; Mice, Transgenic; Phenotype; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	2012
Maternal phenylketonuria in Western Australia: pregnancy outcomes and developmental outcomes in offspring. Journal of paediatrics and child health, 2003, Volume: 39, Issue:5 Topics: Child Behavior; Child Development; Child, Preschool; Cognition; Developmental Disabilities; Female; Hospitals, Maternity; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Risk Factors; Western Australia	2003
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Analysis of Variance; Child; Cognition; Female; Genotype; Humans; Intelligence; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Regression Analysis	2003
Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Female; Heart Defects, Congenital; Humans; Infant, Newborn; Logistic Models; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Care; Prospective Studies; Weight Gain	2003
Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Aptitude Tests; Child; Child Development; Child, Preschool; Female; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Linear Models; Longitudinal Studies; Male; Models, Statistical; Mutation; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors	2003
Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Analysis of Variance; Case-Control Studies; Child; Child Behavior; Child Behavior Disorders; Child Development; Cognition; Female; Humans; Intellectual Disability; Intelligence; Logistic Models; Longitudinal Studies; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Psychological Tests; Socioeconomic Factors; Statistics, Nonparametric	2003
Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Birth Weight; Body Height; Case-Control Studies; Female; Head; Humans; Infant; Infant, Newborn; Intelligence; Intelligence Tests; Mutation; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications; Reference Values	2003
Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Birth Weight; Child; Child, Preschool; Cohort Studies; Diet, Protein-Restricted; Female; Head; Humans; Infant; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Preconception Care; Pregnancy; Prenatal Care; Registries; United Kingdom	2003
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics, 2003, Volume: 112, Issue:6 Pt 2 Topics: Biopterins; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Genotype; Humans; Infant, Newborn; Male; Mutation; Neonatal Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2003
Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy. The Journal of pediatrics, 2004, Volume: 144, Issue:2 Topics: Abnormalities, Multiple; Child; Child, Preschool; Cognition; Developmental Disabilities; Diet, Protein-Restricted; Face; Female; Fetal Growth Retardation; Gestational Age; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Intelligence Tests; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Prenatal Care	2004
Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria. Child: care, health and development, 2004, Volume: 30, Issue:5 Topics: Adult; Child; Child Behavior Disorders; Female; Humans; Learning Disabilities; Male; Pedigree; Phenotype; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	2004
Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Archives of disease in childhood, 2005, Volume: 90, Issue:2 Topics: Analysis of Variance; Birth Weight; Child; Child, Preschool; Cognition Disorders; Developmental Disabilities; Female; Head; Heart Defects, Congenital; Humans; Infant, Newborn; Intelligence; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Registries; Time Factors; United Kingdom	2005
Tetrahydrobiopterin and maternal PKU. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2005
Neuropathology of a 4-month-old infant born to a woman with phenylketonuria. Developmental medicine and child neurology, 2008, Volume: 50, Issue:3 Topics: Adult; Agenesis of Corpus Callosum; Biopsy; Cerebrosides; Fatal Outcome; Female; Heart Failure; Humans; Infant; Magnetic Resonance Imaging; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prosencephalon; Sulfoglycosphingolipids	2008
The Maternal Phenylketonuria Collaborative Study: a status report. Nutrition reviews, 1994, Volume: 52, Issue:11 Topics: Abortion, Spontaneous; Adolescent; Adult; Congenital Abnormalities; Embryonic and Fetal Development; Female; Follow-Up Studies; Gestational Age; Humans; Infant, Low Birth Weight; Infant, Newborn; Intellectual Disability; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Prospective Studies	1994
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Archives of disease in childhood, 1993, Volume: 68, Issue:3 Topics: Adolescent; Child; Child, Preschool; Counseling; Female; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	1993
[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring]. Casopis lekaru ceskych, 1996, Jan-17, Volume: 135, Issue:2 Topics: Adolescent; Adult; Czech Republic; Female; Humans; Incidence; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Complications	1996
Nutrition and reproductive outcome in maternal phenylketonuria. European journal of pediatrics, 1996, Volume: 155 Suppl 1 Topics: Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Nutrition Assessment; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Weight Gain	1996
Maternal phenylketonuria. A study from the United Kingdom. European journal of pediatrics, 1996, Volume: 155 Suppl 1 Topics: Child Development; Diet, Protein-Restricted; Female; Humans; Infant; Intelligence; Patient Compliance; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; United Kingdom	1996
Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:1 Topics: Adolescent; Adult; Child; Diet, Protein-Restricted; Female; Follow-Up Studies; Food; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Social Support	1997
Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. American journal of medical genetics, 1997, Mar-03, Volume: 69, Issue:1 Topics: Cohort Studies; Cooperative Behavior; Face; Female; Humans; Nervous System; Nervous System Diseases; Nervous System Malformations; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	1997
Neonatal neurological assessment of offspring in maternal phenylketonuria. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:1 Topics: Developmental Disabilities; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Neurologic Examination; Neuropsychological Tests; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	1998
[An experimental study on the effects of maternal hyperphenylalaninemia on the central nervous system and behavior of offspring rats]. Anales espanoles de pediatria, 1998, Volume: 48, Issue:1 Topics: Amino Acids, Branched-Chain; Animals; Animals, Newborn; Behavior, Animal; Brain; Enzyme Inhibitors; Female; Fenclonine; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Rats; Rats, Wistar; Synaptosomes	1998
Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. Molecular genetics and metabolism, 1998, Volume: 63, Issue:2 Topics: Adult; Female; Follow-Up Studies; Genetic Carrier Screening; Humans; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy	1998
Maternal phenylketonuria. Annals of clinical biochemistry, 1998, Volume: 35 ( Pt 4) Topics: Abortion, Therapeutic; Adult; Aortic Coarctation; Child; Child, Preschool; Female; Fetal Growth Retardation; Humans; Infant; Infant, Newborn; Intelligence Tests; Male; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Respiratory Distress Syndrome, Newborn	1998
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) European journal of pediatrics, 1999, Volume: 158, Issue:1 Topics: Female; Genetic Testing; Humans; Infant, Newborn; Italy; Mutation; Neonatal Screening; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	1999
Maternal phenylketonuria: a continuing problem. The Medical journal of Australia, 1999, Jun-21, Volume: 170, Issue:12 Topics: Adolescent; Adult; Databases, Factual; Female; Humans; Neonatal Screening; New South Wales; Phenylalanine; Phenylketonuria, Maternal; Population Surveillance; Pregnancy; Pregnancy Outcome	1999
Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria. Journal of paediatrics and child health, 1999, Volume: 35, Issue:5 Topics: Adult; Female; Fetal Diseases; Humans; Intellectual Disability; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Syndrome	1999
Necessity of complete intake of phenylalanine-free amino acid mixture for metabolic control of phenylketonuria. Journal of the American Dietetic Association, 1999, Volume: 99, Issue:12 Topics: Adult; Amino Acids; Child, Preschool; Diet, Protein-Restricted; Eating; Female; Humans; Patient Compliance; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome	1999
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. American journal of obstetrics and gynecology, 2000, Volume: 182, Issue:2 Topics: Adult; Child; Child, Preschool; Cognition Disorders; Diet, Protein-Restricted; Educational Status; Female; Heart Defects, Congenital; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Prospective Studies; Social Class	2000
Nutritional factors affecting serum phenylalanine concentration during pregnancy for identical twin mothers with phenylketonuria. Acta paediatrica (Oslo, Norway : 1992), 2000, Volume: 89, Issue:8 Topics: Adult; Dietary Fats; Dietary Proteins; Diseases in Twins; Female; Humans; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonuria, Maternal; Pregnancy	2000
Effect of phenylalanine and its metabolites on the proliferation and viability of neuronal and astroglial cells: possible relevance in maternal phenylketonuria. The Journal of pharmacology and experimental therapeutics, 2000, Volume: 295, Issue:1 Topics: Astrocytes; Cell Division; Cell Survival; Female; Humans; Neurons; Phenethylamines; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Thymidine; Tumor Cells, Cultured	2000
The International Collaborative Study of Maternal Phenylketonuria: status report 1998. European journal of pediatrics, 2000, Volume: 159 Suppl 2 Topics: Adult; Congenital Abnormalities; Female; Genotype; Humans; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Research	2000
Comments on the International Collaborative Study of Maternal Phenylketonuria: status report 1998. European journal of pediatrics, 2000, Volume: 159 Suppl 2 Topics: Adult; Female; Humans; Multicenter Studies as Topic; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome	2000
Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. The American journal of clinical nutrition, 2001, Volume: 73, Issue:4 Topics: Diet Records; Dietary Fats; Dietary Proteins; Energy Intake; Female; Genotype; Humans; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Pregnancy; Pregnancy Outcome; Weight Gain	2001
[Dietary recommendations for pregnant women affected with phenylketonuria]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2001, Volume: 8, Issue:4 Topics: Adult; Diet; Female; Humans; Nutrition Policy; Nutritional Status; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Risk Factors	2001
[Maternal phenylketonuria]. Revue medicale de la Suisse romande, 2001, Volume: 121, Issue:4 Topics: Adult; Congenital Abnormalities; Diet, Protein-Restricted; Energy Intake; Female; Fetal Growth Retardation; Gestational Age; Humans; Nutritional Requirements; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Care; Risk Factors; Tyrosine	2001
Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring. Molecular genetics and metabolism, 2001, Volume: 74, Issue:4 Topics: Abortion, Spontaneous; Animals; Disease Models, Animal; Embryonic and Fetal Development; Female; Fetal Diseases; Humans; Male; Mice; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Tyrosine	2001
Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. American journal of obstetrics and gynecology, 1992, Volume: 166, Issue:4 Topics: Congenital Abnormalities; Female; Humans; Longitudinal Studies; Medical Records; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prospective Studies; Reference Values	1992
Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration. Archives of disease in childhood, 1991, Volume: 66, Issue:11 Topics: Adult; Female; Humans; Phenylalanine; Phenylketonuria, Maternal; Preconception Care; Pregnancy; Tyrosine	1991