sapropterin has been researched along with Intellectual Disability in 12 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (25.00) | 18.7374 |
| 1990's | 1 (8.33) | 18.2507 |
| 2000's | 4 (33.33) | 29.6817 |
| 2010's | 3 (25.00) | 24.3611 |
| 2020's | 1 (8.33) | 2.80 |
| Authors | Studies |
|---|---|
| Çıkı, K; Dursun, A; Özgül, RK; Pektaş, E; Sivri, HS; Tokatlı, A; Yıldız, Y; Yücel Yılmaz, D | 1 |
| Afroze, B; Ahmed, S; Ali, ZZ; Jafri, L; Khan, AH; Majid, H | 1 |
| Anikster, Y; Ben-Zeev, B; Benoist, JF; Berutti, R; Blau, N; Bruggmann, R; Cremer, K; Dorboz, I; Engels, H; Gahl, WA; Gemperle-Britschgi, C; Guarani, V; Haack, TB; Harper, JW; Heimer, G; Hoffmann, GF; Huttlin, EL; Imbard, A; Keller, I; Landau, Y; Malicdan, MCV; Marek-Yagel, D; Martinez, A; Mayatepek, E; Meili, D; Meissner, T; Meitinger, T; Mullikin, JC; Opladen, T; Paulo, JA; Pode-Shakked, B; Prokisch, H; Schiff, M; Schwartz, G; Shen, N; Strom, TM; Thöny, B; Trefz, FK; Vilboux, T; Ziv-Strasser, L | 1 |
| Koch, R | 1 |
| Campistol, J; González, MJ; Gutiérrez, AP; Vilaseca, MA | 1 |
| Cheng, LY; Chiu, PC; Hsiao, KJ; Lee, NC; Liu, TT; Niu, DM | 1 |
| Gu, XF; Han, LS; Liu, XQ; Qiu, WJ; Ye, J; Zhang, YF; Zhou, JD | 1 |
| Aziz, AA; Blair, JA; Leeming, RJ; Sylvester, PE | 1 |
| Clow, CL; Scriver, CR | 1 |
| Pogson, D | 1 |
| Matsumura, R | 1 |
| Blair, J; Hagberg, B; Leeming, R; Sahota, A | 1 |
2 review(s) available for sapropterin and Intellectual Disability
| Article | Year |
|---|---|
Phenylketonuria: epitome of human biochemical genetics (first of two parts).
Topics: Animals; Biopterins; Brain; Chromosome Mapping; Female; Homeostasis; Humans; Intellectual Disability; Liver; Mutation; Myelin Proteins; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1980 |
[Hyperphenylalaninemia].
Topics: Biopterins; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Psychomotor Disorders | 2000 |
10 other study(ies) available for sapropterin and Intellectual Disability
| Article | Year |
|---|---|
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Developmental Disabilities; Female; Genetic Variation; HSP40 Heat-Shock Proteins; Humans; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Protein Isoforms | 2021 |
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
Topics: Anticonvulsants; Biopterins; Child, Preschool; Cost of Illness; Delayed Diagnosis; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Male; Muscle Hypotonia; Muscle Relaxants, Central; Pakistan; Patient Acceptance of Health Care; Phenylalanine Hydroxylase; Phenylketonurias; Retrospective Studies; Seizures; Tertiary Care Centers; Treatment Refusal; Withholding Treatment | 2019 |
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Topics: Alleles; Amino Acid Sequence; Biopterins; Case-Control Studies; Dopamine; Dystonia; Exons; Female; Fibroblasts; Gene Deletion; Genome-Wide Association Study; HSP70 Heat-Shock Proteins; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Repressor Proteins; Serotonin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 2017 |
Maternal phenylketonuria and tetrahydrobiopterin.
Topics: Biopterins; Child, Preschool; Congenital Abnormalities; Dose-Response Relationship, Drug; Drug Administration Schedule; Female; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Prenatal Diagnosis; Risk Assessment; Treatment Outcome | 2008 |
[Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units].
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cooperative Behavior; Delayed Diagnosis; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Follow-Up Studies; Hospital Units; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Phenylalanine Hydroxylase; Phenylketonurias; Quality of Life; Registries; Socioeconomic Factors; Spain; Surveys and Questionnaires; Young Adult | 2012 |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors | 2006 |
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
Topics: Adolescent; Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Dystonia; Female; GTP Cyclohydrolase; Humans; Infant; Intellectual Disability; Male; Mutation; Phenylalanine Hydroxylase; Phosphorus-Oxygen Lyases | 2007 |
Tetrahydrobiopterin metabolism in Down's syndrome and in non-Down's syndrome mental retardation.
Topics: Adult; Aged; Biopterins; Down Syndrome; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Pteridines | 1982 |
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior | 1997 |
Tetrahydrobiopterin metabolism in the Rett disease.
Topics: Biopterins; Child; Dihydropteridine Reductase; Female; Humans; Intellectual Disability; NADH, NADPH Oxidoreductases; Neurocognitive Disorders; Pteridines; Stereotyped Behavior; Syndrome | 1985 |