Browsing Biospecimens
Displaying concentrations 2576 - 2600 of 99011 in total
| Biospecimen | Metabolite | Structure | Concentration | Patient Status | Condition | Age | Sex | References | Details |
|---|---|---|---|---|---|---|---|---|---|
| Blood | Glutamine | 900.0 (700.0-1100.0) uM | Abnormal | Carbamoyl Phosphate Synthetase Deficiency | Children (1-13 years old) | Both |
| details | |
| Blood | Cholesterol | 4141.0 (3105.0-5176.0) uM | Abnormal | Cholesteryl ester storage disease | Adult (>18 years old) | Both |
| details | |
| Blood | Cholesterol | 9317.8 (7764.8-10870.8) uM | Abnormal | Cholesteryl ester storage disease | Children (1-13 years old) | Both |
| details | |
| Blood | Lactic acid | 1350.0 (900.0-1800.0) uM | Abnormal | Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome | Adult (>18 years old) | Both |
| details | |
| Blood | Lactic acid | 4000.0 (2000.0-6000.0) uM | Abnormal | Chronic progressive external opthalmoplegia | Children (1-13 years old) | Both |
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| Blood | Cob(I)alamin | 0.00041 (0.00015-0.00067) uM | Abnormal | Cobalamin malabsorption | Adult (>18 years old) | Both |
| details | |
| Blood | Cob(I)alamin | 0.000094 (0.000037-0.00015) uM | Abnormal | Cobalamin malabsorption | Children (1-13 years old) | Both |
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| Blood | Bilirubin | 573.0 (291.0-855.0) uM | Abnormal | Crigler-Najjar syndrome Type I | Children (1-13 years old) | Both |
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| Blood | Cholesterol | 8000.0 (6000.0-10000.0) uM | Abnormal | Cystinosis | Children (1-13 years old) | Both |
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| Blood | Glycine | 486.0 (232.0-740.0) uM | Abnormal | D-Glyceric acidemia | Adult (>18 years old) | Both |
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| Blood | Glycine | 1000.0 (800.0-1200.0) uM | Abnormal | D-Glyceric acidura | Children (1-13 years old) | Both |
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| Blood | beta-Alanine | 23.0 uM | Abnormal | GABA transaminase deficiency | Children (1-13 years old) | Both |
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| Blood | gamma-Aminobutyric acid | 1.0 (0.0-2.0) uM | Abnormal | Gaba-transaminase deficiency | Adult (>18 years old) | Both |
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| Blood | gamma-Aminobutyric acid | 1.45 (0.00-2.9) uM | Abnormal | GABA transaminase deficiency | Children (1-13 years old) | Both |
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| Blood | beta-Alanine | 5.00 (0.00-10.00) uM | Abnormal | Hyper beta-alaninemia | Adult (>18 years old) | Both |
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| Blood | beta-Alanine | 107.5 (15.00-200.00) uM | Abnormal | Hyper beta-alaninemia | Children (1-13 years old) | Both |
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| Blood | Pyroglutamic acid | 87.00 (13.00-161.00) uM | Abnormal | Glutathione synthetase deficiency | Adult (>18 years old) | Both |
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| Blood | Proline | 650.00 (300.00-1000.00) uM | Abnormal | Glutathione synthetase deficiency | Children (1-13 years old) | Both |
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| Blood | Phosphorus | 2200.00 (1400.00-3000.00) uM | Abnormal | Glycerol intolerance syndrome | Adult (>18 years old) | Both |
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| Blood | Phosphorus | 50250.00 (500.00-100000.00) uM | Abnormal | Glycerol intolerance syndrom | Children (1-13 years old) | Both |
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| Blood | Uric acid | 476.00 (357.00-714.00) uM | Abnormal | GOUT | Children (1-13 years old) | Both |
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| Blood | Hydrogen carbonate | 25500.00 (24000.00-27000.00) uM | Abnormal | Hawkinsinuria | Adult (>18 years old) | Both |
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| Blood | Hydrogen carbonate | 12000.00 (10000.00-14000.00) uM | Abnormal | Hawkinsinuria | Children (1-13 years old) | Both |
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| Blood | DL-Homocystine | 122.5 (12.00-233.00) uM | Abnormal | Homocystinuria | Children (1-13 years old) | Both |
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| Blood | Methionine | 9.00 (0.00-18.00) uM | Abnormal | Homocystinuria | Children (1-13 years old) | Both |
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