| 1 | (S)-2-amino-6-(2-hydroxypropanoyl)-7,8-dihydropteridin-4(3H)-one | - | - | - | - | [1] 240 240 |
| 2 | 5,6,7,8-tetrahydrobiopterin | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 3 | 6R-BH4 | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [3] 86 86, 124, 240 |
| 4 | A16AX07 | - | - | - | - | [1] 240 240 |
| 5 | Amino acids | [1] Amino acids Amino acids | - | - | - | [3] 70 70, 240, 298 |
| 6 | Behavioral: Neuro-psychological Assessment | - | - | - | - | [1] 240 240 |
| 7 | Behavioral: phenylalanine restricted diet | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 8 | Behavioral: Restricted phenylalanine diet | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 9 | BH4 | - | - | - | - | [5] 51 51, 86, 124, 240, 299 |
| 10 | Blood samples | - | - | - | - | [9] 13 13, 41, 46, 51, 61, 97, 227, 240, 271 |
| 11 | BMN 165 | - | - | - | - | [1] 240 240 |
| 12 | BMN 165 (rAvPAL-PEG) | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 13 | BMN 307 | - | - | - | - | [1] 240 240 |
| 14 | BMN165 20mg/day | - | - | - | - | [1] 240 240 |
| 15 | BMN165 40mg/day | - | - | - | - | [1] 240 240 |
| 16 | CDX | - | - | - | - | [2] 222 222, 240 |
| 17 | CDX 6114 | - | - | - | - | [1] 240 240 |
| 18 | CNSA-001 | - | - | - | - | [1] 240 240 |
| 19 | Cohort 1 0.225g | - | - | - | - | [1] 240 240 |
| 20 | Cohort 2 0.75g | - | - | - | - | [1] 240 240 |
| 21 | Cohort 3 2.25 g | - | - | - | - | [1] 240 240 |
| 22 | Corn | [1] Corn Corn | - | - | - | [2] 46 46, 240 |
| 23 | Corn/soy oil | [1] Corn Corn | - | - | - | [1] 240 240 |
| 24 | Diagnostic Test: Whole body Phe oxidation testing | - | - | - | - | [1] 240 240 |
| 25 | Diet | - | - | - | - | [3] 97 97, 240, 299 |
| 26 | Dietary Supplement for PKU patients | - | - | - | - | [1] 240 240 |
| 27 | Docosahexaenoic acid | [1] Doconexent Doconexent | - | - | - | [7] 6 6, 49, 90, 94, 240, 299, 301 |
| 28 | Free amino acids intake | [1] Amino acids Amino acids | - | - | - | [1] 240 240 |
| 29 | Glycomacropeptide-based protein substitute | - | - | - | - | [1] 240 240 |
| 30 | Hepatocyte Transplant | - | - | - | - | [1] 240 240 |
| 31 | High oleic sunflower oil | [1] Sunflower oil Sunflower oil | [1] D09006
D09006
| - | - | [1] 240 240 |
| 32 | HMI-103 | - | - | - | - | [1] 240 240 |
| 33 | Immunosuppression | - | - | - | - | [1] 240 240 |
| 34 | KUVAN | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 35 | Kuvan 100mg soluble tablet | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 36 | KuvanTM Therapy | - | - | - | - | [1] 240 240 |
| 37 | Kuvan® | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 38 | Kuvan® (sapropterin dihydrochloride) | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 39 | Large Neutral Amino Acid Therapy | - | - | - | - | [1] 240 240 |
| 40 | Liver biopsy | - | - | - | - | [4] 93 93, 171, 231, 240 |
| 41 | Low calorie protein substitute | - | - | - | - | [1] 240 240 |
| 42 | Medikinet | - | - | - | - | [1] 240 240 |
| 43 | Microalgal oil | - | - | - | - | [1] 240 240 |
| 44 | Moxifloxacin | [1] Moxifloxacin Moxifloxacin | [2] D00874
D00874
,
D08237
| - | - | [9] 2 2, 6, 46, 49, 85, 86, 113, 240, 299 |
| 45 | N.a. | - | - | - | - | [10] 3 3, 6, 8, 13, 46, 96, 97, 240, 256, 271 |
| 46 | Nap | - | - | - | - | [2] 96 96, 240 |
| 47 | Other: Diet | - | - | - | - | [1] 240 240 |
| 48 | Other: Diet treatment | - | - | - | - | [1] 240 240 |
| 49 | Other: Liver Evaluation | - | - | - | - | [1] 240 240 |
| 50 | Other: Meal Challenge | - | - | - | - | [1] 240 240 |
| 51 | Other: Normal (control) diet | - | - | - | - | [1] 240 240 |
| 52 | Other: Phenylalanine (Phe)-restricted diet | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 53 | Other: Routine | - | - | - | - | [1] 240 240 |
| 54 | Palynziq | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 55 | PEG | - | - | - | - | [12] 6 6, 13, 41, 46, 65, 78, 96, 97, 140, 144, 240, 299 |
| 56 | PEGVALIASE | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 57 | Phe | - | - | - | - | [2] 75 75, 240 |
| 58 | Phenoptin | - | - | - | - | [2] 124 124, 240 |
| 59 | Phenylalanine | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 60 | Phenylalanine restricted diet | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 61 | Phenylalanine-free protein substitute in tablet form (XPhe minis) | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 62 | Phenylalanine-free protein substitute tablets | [1] Phenylalanine Phenylalanine | [1] D00021
D00021
| - | - | [1] 240 240 |
| 63 | Phenylketonuria-type diet | - | - | - | - | [1] 240 240 |
| 64 | PKU Explore | - | - | - | - | [1] 240 240 |
| 65 | PKU express plus | - | - | - | - | [1] 240 240 |
| 66 | PKU Sphere | - | - | - | - | [1] 240 240 |
| 67 | PKU sphere liquid | - | - | - | - | [1] 240 240 |
| 68 | PKU Start | - | - | - | - | [1] 240 240 |
| 69 | PKU/TYR GMP Protein Substitute | - | - | - | - | [1] 240 240 |
| 70 | Protein intake | - | - | - | - | [1] 240 240 |
| 71 | PTC923 | - | - | - | - | [1] 240 240 |
| 72 | Radiation: Preparative Radiation Therapy | - | - | - | - | [1] 240 240 |
| 73 | RAvPAL-PEG | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 74 | RAvPAL-PEG 0.001 mg/kg | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 75 | RAvPAL-PEG 0.003 mg/kg | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 76 | RAvPAL-PEG 0.01 mg/kg | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 77 | RAvPAL-PEG 0.03 mg/kg | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 78 | RAvPAL-PEG 0.1 mg/kg | [1] Pegvaliase Pegvaliase | [1] D11077
D11077
| [1] PAH PAH 💬 | [5] Biosynthesis of amino acids Biosynthesis of amino acids, Folate biosynthesis, Metabolic pathways, Phenylalanine metabolism, Phenylalanine, tyrosine and tryptophan biosynthesis 💬 | [1] 240 240 |
| 79 | RTX | - | - | - | - | [5] 11 11, 46, 65, 222, 240 |
| 80 | RTX-134 | - | - | - | - | [1] 240 240 |
| 81 | Sapropterin | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [3] 86 86, 124, 240 |
| 82 | Sapropterin (Kuvan) | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 83 | SAPROPTERIN DIHYDROCHLORIDE | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 84 | Sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 85 | Sapropterin Dihydrocholoride | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 86 | SAPROPTERIN HYDROCHLORIDE | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 87 | Sapropterin, sapropterin dihydrochloride | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 88 | Sapropterin, sapropterin hydrochloride | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 89 | Sapropterindihydrochloride | - | - | - | - | [1] 240 240 |
| 90 | Saproterin dihydrochloride | - | - | - | - | [1] 240 240 |
| 91 | Sunflower oil | [1] Sunflower oil Sunflower oil | [1] D09006
D09006
| - | - | [3] 46 46, 240, 299 |
| 92 | SYNB1618 | - | - | - | - | [1] 240 240 |
| 93 | SYNB1934 | - | - | - | - | [1] 240 240 |
| 94 | Synergy | - | - | - | - | [1] 240 240 |
| 95 | T1401 | - | - | - | - | [1] 240 240 |
| 96 | Tetrahydrobiopterin | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |
| 97 | Tetrahydrobiopterin (BH4) | [1] Sapropterin Sapropterin | [1] D08505
D08505
| - | - | [1] 240 240 |