sapropterin has been researched along with Decreased Muscle Tone in 3 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (33.33) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 1 (33.33) | 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 |
Atarés, M; Blau, N; Cardesa-Garcia, J; Joller, P; Niederwieser, A; Wang, M | 1 |
3 other study(ies) available for sapropterin and Decreased Muscle Tone
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 |
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
Topics: Adolescent; Aminohydrolases; Biopterins; Child; Child, Preschool; Dopamine; Female; GTP Cyclohydrolase; Humans; Infant; Liver; Metabolism, Inborn Errors; Muscle Hypotonia; Neopterin; Phenylalanine; Pteridines; Serotonin | 1984 |