phenylalanine and Syndrome

phenylalanine has been researched along with Syndrome in 37 studies

Research

Studies (37)

TimeframeStudies, this research(%)All Research%
pre-199018 (48.65)18.7374
1990's6 (16.22)18.2507
2000's5 (13.51)29.6817
2010's5 (13.51)24.3611
2020's3 (8.11)2.80

Authors

AuthorsStudies
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, T1
Bahrami, K; Järvinen, J; Rautio, J; Srisongkram, T; Timonen, J; Weerapreeyakul, N1
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, A1
Abudu, H; Ahemaiti, A; Aximujiang, K; Wu, G; Yunusi, K; Zhang, J1
He, Q; Liu, D; Liu, G; Wang, B; Wang, Q; Zhang, L; Zhang, X; Zheng, J; Zhou, Y1
Bönnemann, C; Brockmann, K; Gärtner, J; Huebner, A; Kind, B; Koehler, K; Krumbholz, M1
de Zwart-Storm, EA; Martin, PE; Steijlen, PM; van Geel, M; van Neer, PA; van Steensel, MA1
Dagur, PK; Gastinger, MJ; Panicker, LM; Simonds, WF; Zhang, JH1
Ang, BU; Kirschner, RE; Nah, HD; Spivak, RM1
Akar, M; Altug, N; Dilmen, U; Erdeve, O; Gokmen, T; Oguz, SS1
ELVEHJEM, CA; HANKES, LV1
Blau, N; Casaer, P; Goriounov, D; Hedrich, K; Klein, C; Legius, E; Matthijs, G; Møller, LB; Romstad, A; Steyaert, J; Theys, P; Van Hove, JL; Wevers, R1
Barre, A; Czjzek, M; Peumans, WJ; Receveur-Bréchot, V; Rougé, P; Roussel, A; Van Damme, EJ1
Kawatsu, T; Kida, K; Machino, H; Matsuda, H; Miki, Y1
Bay, C; Kelts, D; Ney, D; Nyhan, WL; Schneider, JA1
Annenkov, GA1
Bevilacqua, G; Castelli, MR; Nespoli, A; Rossi, N; Salerno, F; Staudacher, C1
Klein, LE; Nordlund, JJ1
Máté, M; Somogyi, C; Szabó, L1
Bliumina, MG; Gerasimova, NS; Kopylova, NV; Lebedev, BV; Sitnichenko, EI1
Breakefield, XO; Ozelius, LJ1
Belon, C; Chaussain, JL; Lobaccaro, JM; Lumbroso, S; Martin, D; Sultan, C1
Deguchi, K; Takahashi, N; Takeuchi, H; Yuki, N1
Ichikawa, H; Kawamura, M; Sugita, K; Suzuki, M; Watanabe, Y; Yuki, N1
Borrow, P; de la Torre, JC; Oldstone, MB; Teng, MN1
Kesby, G1
Owada, M1
Bienfang, DC; Kuwabara, T; Pueschel, SM1
Fukuda, S; Jones, M; Kopple, JD; Swendseid, ME1
Chalmers, RA; Lawson, AM; Liberman, MM; Watts, RW1
Greene, CL; Luder, AS1
Matsuo, N1
Esumi, N; Furukawa, N; Imashuka, S; Kinugasa, A; Kodo, N; Morioka, Y; Todo, S1
Crovato, F; Guarrera, M; Rebora, A1
Buxton, BH; Curzon, G; Fenton, G; Kantamaneni, BD; Parkes, JD; Record, C; Struthers, G1
Nothjunge, J1
Dallaire, L; Massicotte, P; Mongeau, JG; Morin, CL; Robillard, JE1

Reviews

3 review(s) available for phenylalanine and Syndrome

ArticleYear
[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
Hyperphenylalaninemia syndromes: current status of diagnosis and management.
    The Keio journal of medicine, 1988, Volume: 37, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome

1988
[Clinico-chemical symptom: hyperphenylalaninemia].
    Hippokrates, 1974, Volume: 45, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Syndrome

1974

Other Studies

34 other study(ies) available for phenylalanine and Syndrome

ArticleYear
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
Development of Sesamol Carbamate-L-Phenylalanine Prodrug Targeting L-Type Amino Acid Transporter1 (LAT1) as a Potential Antiproliferative Agent against Melanoma.
    International journal of molecular sciences, 2022, Jul-30, Volume: 23, Issue:15

    Topics: Amino Acids; Benzodioxoles; Biological Transport; Carbamates; HEK293 Cells; Humans; Large Neutral Amino Acid-Transporter 1; Leucine; Melanoma; Phenols; Phenylalanine; Prodrugs; Syndrome

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
[Metabonomic analysis of the urine from rat model with abnormal sapra syndrome].
    Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2017, Oct-28, Volume: 42, Issue:10

    Topics: Amino Acids; Animals; Citric Acid; Creatine; Disease Models, Animal; Energy Metabolism; Glutamine; Glycoproteins; Isoleucine; Leucine; Metabolomics; Phenylalanine; Rats; Rats, Wistar; Syndrome

2017
Protective effects of batimastat against hemorrhagic injuries in delayed jellyfish envenomation syndrome models.
    Toxicon : official journal of the International Society on Toxinology, 2015, Dec-15, Volume: 108

    Topics: Angiography; Animals; Bites and Stings; Cnidarian Venoms; Hemorrhage; In Situ Nick-End Labeling; Kidney; Liver; Male; Metalloproteases; Mice; Necrosis; Phenylalanine; Protective Agents; Rats; Rats, Sprague-Dawley; Scyphozoa; Syndrome; Thiophenes; X-Ray Microtomography

2015
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
    European journal of human genetics : EJHG, 2008, Volume: 16, Issue:12

    Topics: Amino Acid Substitution; DNA Mutational Analysis; Female; HeLa Cells; Humans; Lacrimal Apparatus Diseases; Leucine; Muscular Atrophy; Musculoskeletal Abnormalities; Nerve Tissue Proteins; Nuclear Pore Complex Proteins; Peripheral Nervous System Diseases; Phenylalanine; Point Mutation; Syndrome; Transfection

2008
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
    The American journal of pathology, 2008, Volume: 173, Issue:4

    Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Child, Preschool; Connexin 26; Connexins; Conserved Sequence; Deafness; DNA Mutational Analysis; Female; Hearing Loss, Sensorineural; HeLa Cells; Humans; Keratoderma, Palmoplantar; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Phenylalanine; Protein Structure, Tertiary; Recombinant Fusion Proteins; Serine; Syndrome

2008
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
    Endocrine-related cancer, 2010, Volume: 17, Issue:2

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Carcinoma; Cell Nucleolus; Cells, Cultured; Genes, Dominant; Humans; Hyperparathyroidism; Jaw Neoplasms; Leucine; Mice; Molecular Sequence Data; Mutant Proteins; Mutation, Missense; NIH 3T3 Cells; Pedigree; Phenylalanine; Protein Transport; Sequence Homology, Amino Acid; Syndrome; Tumor Suppressor Proteins

2010
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    The Journal of craniofacial surgery, 2010, Volume: 21, Issue:2

    Topics: Acrocephalosyndactylia; Adenoviridae; Alkaline Phosphatase; Animals; Arginine; Biomarkers; Cell Differentiation; Cell Proliferation; Cells, Cultured; Coculture Techniques; Coloring Agents; Core Binding Factor Alpha 1 Subunit; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Dura Mater; Genetic Vectors; Mice; Osteoblasts; Osteogenesis; Osteopontin; Phenylalanine; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Syndrome; Tetrazolium Salts; Thiazoles

2010
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
A nervous syndrome produced with phenylalanine and methionine.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1949, Volume: 72, Issue:2

    Topics: Humans; Methionine; Nervous System; Phenylalanine; Syndrome

1949
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
    Journal of neurology, neurosurgery, and psychiatry, 2006, Volume: 77, Issue:1

    Topics: Adolescent; Adult; Circadian Rhythm; Dystonia; Female; Fibroblasts; Gene Expression; GTP Cyclohydrolase; Humans; Lower Extremity; Male; Middle Aged; Paraparesis, Spastic; Parkinsonian Disorders; Pedigree; Phenotype; Phenylalanine; Polymerase Chain Reaction; Reflex, Abnormal; Syndrome; Tendinopathy; Tremor

2006
Crystal structure at 1.45-A resolution of the major allergen endo-beta-1,3-glucanase of banana as a molecular basis for the latex-fruit syndrome.
    Proteins, 2006, Apr-01, Volume: 63, Issue:1

    Topics: Allergens; Amino Acid Sequence; Binding Sites; Catalysis; Catalytic Domain; Cross Reactions; Crystallography, X-Ray; Epitopes; Epitopes, B-Lymphocyte; Food Hypersensitivity; Fruit; Glucan Endo-1,3-beta-D-Glucosidase; Glucose; Glutamic Acid; Immunoglobulin E; Latex; Models, Molecular; Molecular Conformation; Molecular Sequence Data; Musa; Phenylalanine; Polysaccharides; Protein Binding; Protein Conformation; Protein Structure, Secondary; Proteins; Proteomics; Substrate Specificity; Syndrome; Time Factors; Triose-Phosphate Isomerase; Tyrosine

2006
Successful dietary control of tyrosinemia II.
    Journal of the American Academy of Dermatology, 1983, Volume: 9, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Corneal Opacity; Female; Humans; Keratins; Keratoderma, Palmoplantar; Phenylacetates; Phenylalanine; Phenylpropionates; Phenylpyruvic Acids; Syndrome; Tyrosine; Tyrosine Transaminase

1983
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child.
    American journal of diseases of children (1960), 1983, Volume: 137, Issue:10

    Topics: Adolescent; Adult; Ambulatory Care; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Phenylalanine; Seasons; Syndrome; Tyrosine

1983
[Phenylketonuria and hyperphenylalaninemia: clinico-genetic classification of 14 forms].
    Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1984, Volume: 84, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Genotype; Humans; Phenylalanine; Phenylketonurias; Syndrome

1984
Pathogenesis of hepatic encephalopathy and hyperdynamic syndrome in cirrhosis. Role of false neurotransmitters.
    Archives of surgery (Chicago, Ill. : 1960), 1981, Volume: 116, Issue:9

    Topics: Adolescent; Adult; Aged; Amino Acids; Cardiac Output; Female; Hemodynamics; Hepatic Encephalopathy; Humans; Liver Cirrhosis, Alcoholic; Male; Middle Aged; Octopamine; Phenylalanine; Syndrome; Tryptophan; Tyrosine; Vascular Resistance

1981
Genetic basis of pigmentation and its disorders.
    International journal of dermatology, 1981, Volume: 20, Issue:10

    Topics: Albinism; Animals; Cell Differentiation; Color; Humans; Lentigo; Melanins; Melanocytes; Melanoma; Mice; Monophenol Monooxygenase; Nevus; Phenylalanine; Pigmentation; Pigmentation Disorders; Skin; Syndrome; Tyrosine

1981
[Maternal phenylketonuria syndrome: teratogenic effect of hyperphenylalaninemia].
    Orvosi hetilap, 1982, Nov-21, Volume: 123, Issue:47

    Topics: Adult; Female; Fetal Growth Retardation; Genetic Counseling; Humans; Infant; Intellectual Disability; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Syndrome

1982
[Relationship between the severity of brain damage in phenylketonuria and the degree of hyperphenylalaninemia].
    Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1980, Volume: 80, Issue:12

    Topics: Child; Child, Preschool; Epilepsy; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Risk; Syndrome

1980
Co-factor insufficiency in dystonia-parkinsonian syndrome.
    Nature genetics, 1994, Volume: 8, Issue:3

    Topics: Age of Onset; Biopterins; Chromosome Mapping; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 9; Dopamine; Dystonia; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Japan; Jews; Parkinson Disease; Phenylalanine; Syndrome; Tyrosine 3-Monooxygenase; X Chromosome

1994
A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.
    Fertility and sterility, 1993, Volume: 60, Issue:5

    Topics: Amino Acid Sequence; Base Sequence; Disorders of Sex Development; DNA Primers; DNA-Binding Proteins; Exons; Female; Humans; Infant, Newborn; Male; Molecular Sequence Data; Pedigree; Phenylalanine; Point Mutation; Polymerase Chain Reaction; Receptors, Androgen; Syndrome; Zinc Fingers

1993
[Immunoadsorption therapy on Fisher's syndrome--removal ability of anti-ganglioside antibodies by tryptophan-linked immunoadsorbent].
    Rinsho shinkeigaku = Clinical neurology, 1995, Volume: 35, Issue:8

    Topics: Adult; Autoantibodies; Cerebellar Ataxia; Female; Gangliosides; Gels; Humans; Immunosorbent Techniques; Ophthalmoplegia; Phenylalanine; Polyvinyl Alcohol; Reflex, Abnormal; Reflex, Stretch; Syndrome; Tryptophan

1995
[Removal ability of IgG anti-GQ1b antibody in immunoadsorption therapy for Fisher syndrome--comparison of the removal ability between tryptophane column and phenylalanine column].
    Rinsho shinkeigaku = Clinical neurology, 1996, Volume: 36, Issue:2

    Topics: Adult; Autoantibodies; Cerebellar Ataxia; Female; Gangliosides; Humans; Immunoglobulin G; Immunosorbent Techniques; Ophthalmoplegia; Phenylalanine; Polyradiculoneuropathy; Reflex, Abnormal; Syndrome; Tryptophan

1996
A single amino acid change in the glycoprotein of lymphocytic choriomeningitis virus is associated with the ability to cause growth hormone deficiency syndrome.
    Journal of virology, 1996, Volume: 70, Issue:12

    Topics: Animals; Cell Line; Cricetinae; Genetic Variation; Glycoproteins; Growth Disorders; Hypoglycemia; Lymphocytic choriomeningitis virus; Mice; Mice, Inbred C3H; Phenylalanine; Reassortant Viruses; Serine; Syndrome; Viral Proteins

1996
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
The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1976, Volume: 94, Issue:7

    Topics: Adolescent; Conjunctiva; Cornea; Corneal Opacity; Endothelium; Epithelium; Humans; Inclusion Bodies; Intellectual Disability; Keratoderma, Palmoplantar; Male; Parakeratosis; Phenylalanine; Syndrome; Tyrosine

1976
Amino acid and protein metabolism in renal failure.
    The American journal of clinical nutrition, 1978, Volume: 31, Issue:9

    Topics: Amino Acids; Dietary Proteins; Histidine; Hormones; Humans; Kidney; Kidney Failure, Chronic; Male; Phenylalanine; Proteins; Renal Dialysis; Syndrome; Toxins, Biological; Uremia

1978
Some biochemical effects of chloral hydrate in an infant with a tyrosinemia-like syndrome.
    Pediatric research, 1975, Volume: 9, Issue:12

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Ascorbic Acid; Chloral Hydrate; Female; Humans; Hydrocephalus; Infant; Lactates; Methionine; Oxygenases; Phenylacetates; Phenylalanine; Phenylpyruvic Acids; Syndrome; Tyrosine

1975
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
Hyperphenylalaninemia in malignant histiocytosis and virus-associated hemophagocytic syndrome.
    Acta paediatrica Scandinavica, 1988, Volume: 77, Issue:3

    Topics: Child; Female; Histiocytic Sarcoma; Humans; Infant; Male; Phagocytosis; Phenylalanine; Syndrome; Virus Diseases

1988
Amino acid analysis in hair from PIBI(D)S syndrome.
    Journal of the American Academy of Dermatology, 1986, Volume: 15, Issue:1

    Topics: Amino Acids; Cystine; Female; Hair; Hair Diseases; Humans; Ichthyosis; Phenylalanine; Syndrome

1986
Narcolepsy and cataplexy. Clinical features, treatment and cerebrospinal fluid findings.
    The Quarterly journal of medicine, 1974, Volume: 43, Issue:172

    Topics: Adult; Amphetamine; Aspartic Acid; Body Weight; Cataplexy; Cerebrospinal Fluid Proteins; Dextroamphetamine; Electroencephalography; Feeding and Eating Disorders; Female; Homovanillic Acid; Humans; Libido; Male; Mental Disorders; Methionine; Middle Aged; Narcolepsy; Phenylalanine; Syndrome; Tyrosine

1974
[Lowe's syndrome: multisystemic transport defects].
    L'union medicale du Canada, 1973, Volume: 102, Issue:7

    Topics: Abnormalities, Multiple; Amino Acids; Bicarbonates; Biological Transport; Carbohydrate Metabolism; Child, Preschool; Eye Diseases; Globulins; Glomerular Filtration Rate; Glucose; Humans; Hydrogen-Ion Concentration; Infant; Intellectual Disability; Intestinal Absorption; Kidney Tubules; Male; Phenylalanine; Renal Aminoacidurias; Syndrome; Xylose

1973