phenylalanine and Abnormalities, Congenital

phenylalanine has been researched along with Abnormalities, Congenital in 34 studies

Research

Studies (34)

TimeframeStudies, this research(%)All Research%
pre-199024 (70.59)18.7374
1990's5 (14.71)18.2507
2000's3 (8.82)29.6817
2010's2 (5.88)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Akar, M; Altug, N; Dilmen, U; Erdeve, O; Gokmen, T; Oguz, SS1
Duvekot, JJ; Hop, WC; Prick, BW1
ZOELLER, WW1
BELL, LG1
Huntley, CC; Stevenson, RE1
Levy, HL; Waisbren, SE1
Bartley, J; Beuhler, B; Lipson, A; O'Halloran, M; Walsh, D; Webster, W; Yu, J1
Acosta, PB; Blaskovics, M; Cloud, H; Lis, E; Stroud, H; Wenz, E1
Fyfe, WM; Hart, DM; Scott, TM1
Clarke, JT; Hanley, WB; Johnson, JM; Lehotay, DC; Schoonheyt, WE1
de Sonneville, LM; de Valk, HW; Duran, M; Erkelens, DW; Poll-The, BT1
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, S1
Bianchi, N; Boulat, O; Matthieu, JM1
Biddle, SA; Brenton, DP; Dobbing, J; Erdohazi, M; Fairweather, DV; Macartney, FJ; Pincott, JR; Smith, I; Wolff, OH1
Farquhar, JW1
Hansen, H1
Andrews, M; Hum, C; Pueschel, SM1
Azen, C; de la Cruz, F; Hanley, WB; Koch, R; Levy, HL; Matalon, R; Platt, LD; Rouse, B; Walla, CA1
de la Cruz, F; Koch, R; Levy, HL; Lobbregt, D1
Azen, C; dela Cruz, F; Friedman, E; Hanley, W; Koch, R; Levy, H; Lockhart, L; Matalon, R; Rouse, B1
Carey, WF; Pollard, AC1
Greene, CL; Luder, AS1
Beasley, M; Drogari, E; Lloyd, JK; Smith, I1
Bush, RT; Dukes, PC1
Blyumina, MG1
Hsia, DY1
Yu, JS1
Howell, RR; Stevenson, RE1
Ballester, L; Callens, G; Callens, M; Duquennoy, C; Gaudier, B; Ponté, C1
Howell, RR; Parmley, TH; Stevenson, RE; Thomas, GH1
Egorov, NS; Khokhlov, AP1
Anderson, JA; Fisch, RO; Walker, WA1
Pscheidt, GR; Tamimie, HS1

Reviews

5 review(s) available for phenylalanine and Abnormalities, Congenital

ArticleYear
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
[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
Phenylketonuria and its variants.
    Progress in medical genetics, 1970, Volume: 7

    Topics: Adult; Child, Preschool; Congenital Abnormalities; Female; Gene Frequency; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine

1970
Phenylketonuria: a review.
    Postgraduate medical journal, 1970, Volume: 46, Issue:537

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Mass Screening; Minerals; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Transaminases; Vitamins

1970
The offspring of phenylketonuric women.
    Social biology, 1971, Volume: 18

    Topics: Abortion, Spontaneous; Adult; Birth Weight; Black or African American; Brain Chemistry; Breast Feeding; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Glutamine; Heart Auscultation; Heterozygote; Hexokinase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Maryland; Microcephaly; Myelin Sheath; Nerve Tissue Proteins; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Pyruvate Kinase; Umbilical Cord

1971

Other Studies

29 other study(ies) available for phenylalanine and Abnormalities, Congenital

ArticleYear
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
[ON THE EFFECT OF ROENTGEN-IRRADIATED YOLK ON EMBRYONAL DEVELOPMENT OF THE CHICK].
    Strahlentherapie, 1964, Volume: 124

    Topics: Animals; Chick Embryo; Congenital Abnormalities; Embryonic Development; Niacin; Niacinamide; Ovum; Pharmacology; Phenylalanine; Radiation Effects; Research; Tryptophan

1964
Production of abnormal metamorphosis in a tunicate.
    Nature, 1955, Jun-04, Volume: 175, Issue:4466

    Topics: Animals; Anti-Bacterial Agents; Congenital Abnormalities; Metamorphosis, Biological; Phenylalanine; Thiourea; Urochordata

1955
Congenital malformations in offspring of phenylketonuric mothers.
    Pediatrics, 1967, Volume: 40, Issue:1

    Topics: Abortion, Habitual; Adult; Birth Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Heart Defects, Congenital; Hip Dislocation, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic; Strabismus

1967
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
    The New England journal of medicine, 1983, Nov-24, Volume: 309, Issue:21

    Topics: Abortion, Spontaneous; Birth Weight; Body Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Fetal Blood; Fetus; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine

1983
Maternal hyperphenylalaninemia fetal effects.
    The Journal of pediatrics, 1984, Volume: 104, Issue:2

    Topics: Adolescent; Adult; Child; Congenital Abnormalities; Face; Female; Fetal Growth Retardation; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylalanine; Pregnancy; Pregnancy Complications; Strabismus

1984
Nutrition in pregnancy of women with hyperphenylalaninemia.
    Journal of the American Dietetic Association, 1982, Volume: 80, Issue:5

    Topics: Abortion, Spontaneous; Congenital Abnormalities; Female; Fetal Death; Fetal Growth Retardation; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine

1982
Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.
    Archives of disease in childhood, 1980, Volume: 55, Issue:8

    Topics: Congenital Abnormalities; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pierre Robin Syndrome; Pregnancy; Pregnancy Complications

1980
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
Feto-maternal plasma phenylalanine concentration gradient from 19 weeks gestation to term.
    Clinica chimica acta; international journal of clinical chemistry, 1994, Volume: 225, Issue:2

    Topics: Chromatography, Ion Exchange; Congenital Abnormalities; Cordocentesis; Female; Fetal Blood; Gestational Age; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Ultrasonography

1994
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
[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
Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman.
    Lancet (London, England), 1979, Jan-06, Volume: 1, Issue:8106

    Topics: Abnormalities, Multiple; Brain; Congenital Abnormalities; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Prenatal Care

1979
Conception in a phenylketonuric woman.
    Lancet (London, England), 1979, Feb-10, Volume: 1, Issue:8111

    Topics: Adult; Child; Congenital Abnormalities; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First

1979
Variability of reproductive casualty in maternal phenylalaninemia.
    Early human development, 1978, Volume: 2, Issue:1

    Topics: Abortion, Therapeutic; Birth Weight; Congenital Abnormalities; Female; Fetal Death; Humans; Intellectual Disability; Intelligence; Male; Parents; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Risk

1978
Nutritional management of the female with phenylketonuria during pregnancy.
    The American journal of clinical nutrition, 1977, Volume: 30, Issue:7

    Topics: Amino Acids, Essential; Birth Weight; Congenital Abnormalities; Female; Humans; Menu Planning; Microcephaly; Nutritional Requirements; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications

1977
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
Paternal phenylketonuria.
    The Journal of pediatrics, 1991, Volume: 118, Issue:5

    Topics: Benzene Derivatives; Child; Congenital Abnormalities; Fathers; Humans; Ketones; Male; Phenylalanine; Phenylketonurias; Wechsler Scales

1991
Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3

    Topics: Congenital Abnormalities; Facial Bones; Female; Heart Defects, Congenital; Humans; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome

1990
Microvillar enzymes in amniotic fluid. Considerations for the prenatal diagnosis of cystic fibrosis.
    The Medical journal of Australia, 1986, Jan-20, Volume: 144, Issue:2

    Topics: Alkaline Phosphatase; Amniotic Fluid; Congenital Abnormalities; Cystic Fibrosis; Female; Fetal Diseases; gamma-Glutamyltransferase; Homoarginine; Humans; Infant, Newborn; Isoenzymes; Phenylalanine; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prenatal Diagnosis; Risk

1986
Maternal phenylketonuria and hyperphenylalaninemia: implications for medical practice in the United States.
    American journal of obstetrics and gynecology, 1989, Volume: 161, Issue:5

    Topics: Congenital Abnormalities; Female; Genetic Techniques; Genetic Testing; Humans; Obstetrics; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Registries; Syndrome; United States

1989
Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register.
    Lancet (London, England), 1987, Oct-24, Volume: 2, Issue:8565

    Topics: Birth Weight; Congenital Abnormalities; Diet; Dose-Response Relationship, Drug; Embryonic and Fetal Development; Female; Gestational Age; Head; Humans; Infant, Newborn; International Cooperation; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prospective Studies; Time Factors

1987
Women with phenylketonuria: successful management of pregnancy and implications.
    The New Zealand medical journal, 1985, Mar-27, Volume: 98, Issue:775

    Topics: Adolescent; Adult; Congenital Abnormalities; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; New Zealand; Patient Education as Topic; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy in Adolescence; Time Factors

1985
The role of heterozygosity of women with respect to the phenylketonuria gene in the origin of spontaneous abortions and disturbances of intrauterine fetal development.
    Soviet genetics, 1974, May-01, Volume: 8, Issue:3

    Topics: Abortion, Spontaneous; Bone and Bones; Chromatography, Paper; Congenital Abnormalities; Female; Fetal Diseases; Heterozygote; Humans; Phenylalanine; Phenylketonurias; Pregnancy

1974
[Delayed intrauterine growth with microcephaly in 3 children born of a hyperphenylalaninemic mother].
    Annales de pediatrie, 1972, Volume: 19, Issue:4

    Topics: Abortion, Spontaneous; Adult; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Fetal Diseases; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic

1972
Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.
    American journal of obstetrics and gynecology, 1971, Volume: 111, Issue:1

    Topics: Adult; Amino Acids; Amniotic Fluid; Chromatography; Congenital Abnormalities; Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine

1971
[Excretion of phenylacetylglutamine in the newborn with birth trauma, intrauterine hypotrophy and hemolytic disease].
    Pediatriia, 1968, Volume: 6

    Topics: Birth Injuries; Congenital Abnormalities; Erythroblastosis, Fetal; Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylalanine; Pregnancy

1968
Prenatal and postnatal developmental consequences of maternal phenylketonuria.
    Pediatrics, 1966, Volume: 37, Issue:6

    Topics: Adult; Birth Weight; Congenital Abnormalities; Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine

1966
Effect of feeding 5 per cent L-phenylalanine to young chicks.
    Comparative biochemistry and physiology, 1966, Volume: 17, Issue:2

    Topics: Animals; Congenital Abnormalities; Diet; Nutrition Disorders; Phenylalanine; Poultry Diseases

1966