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Displaying diseases 241 - 250 of 652 in total
Familial mediterranean fever
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Etiocholanolone (HMDB0000490) Blood0.004 +/- 0.0009 uMAbnormalAdult (>18 years old)Both details
Familial partial lipodystrophy  (608600 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Creatinine (HMDB0000562) Blood56.578 (49.506-74.259) uMAbnormalAdult (>18 years old)Both details
Cholesterol (HMDB0000067) Blood5060 (4390-6260) uMAbnormalAdult (>18 years old)Both details
D-Glucose (HMDB0000122) Blood6810 (5210-10250) uMAbnormalAdult (>18 years old)Both details
Fanconi Bickel syndrome  (227810 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
D-Glucose (HMDB0000122) Blood2164.792 uMAbnormalChildren (1-13 years old)Female
  • Late Diagnosis of...
details
Uric acid (HMDB0000289) Blood95.176 uMAbnormalChildren (1-13 years old)Female
  • Late Diagnosis of...
details
Hydrogen carbonate (HMDB0000595) Blood17000-18000 uMAbnormalChildren (1-13 years old)Female
  • Late Diagnosis of...
details
D-Glucose (HMDB0000122) Urine>5550.748 umol/mmol creatinineAbnormalChildren (1-13 years old)Female
  • Late Diagnosis of...
details
Fanconi syndrome
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Uric acid (HMDB0000289) Blood95.176 uMAbnormalAdult (>18 years old)Female details
Phosphate (HMDB0001429) Blood126.354 uMAbnormalAdult (>18 years old)Female details
Potassium (HMDB0000586) Blood1600 uMAbnormalAdult (>18 years old)Female details
Potassium (HMDB0000586) Blood3400 uMAbnormalChildren (1-13 years old)Male details
Hydrogen carbonate (HMDB0000595) Blood12800 uMAbnormalAdult (>18 years old)Female details
Hydrogen carbonate (HMDB0000595) Blood22400 +/- 700 uMAbnormalChildren (1-13 years old)Male details
Glyceraldehyde (HMDB0001051) Urine6407.7 +/- 6030.8 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Hydrogen carbonate (HMDB0000595) Urine0 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
Fatty Acid Oxidation disorder
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
3-Hydroxydodecanoic acid (HMDB0000387) Blood0.4 (0.2-1.4) uMAbnormalAdult (>18 years old)Both details
Febrile seizures  (604352 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
gamma-Aminobutyric acid (HMDB0000112) Cerebrospinal Fluid (CSF)0.1 (0.063 - 0.179) uMAbnormalChildren (1-13 years old)Not Specified details
Inosinic acid (HMDB0000175) Cerebrospinal Fluid (CSF)2.31(0.00-41.40) uMAbnormalAdult (>18 years old)Both details
Inosinic acid (HMDB0000175) Cerebrospinal Fluid (CSF)2.48 (0.00 +/- 27.20) uMAbnormalAdult (>18 years old)Both details
Arginine vasopressin 1-8 (HMDB0012895) Cerebrospinal Fluid (CSF)0.0000006904 +/- 0.0000001556 uMAbnormalAdult (>18 years old)Not Specified details
Somatostatin (HMDB0013072) Cerebrospinal Fluid (CSF)0.000050000 +/- 0.000006777 uMAbnormalChildren (1-13 years old)Not Specified details
Fibromyalgia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Fe2+ (HMDB0000692) Cerebrospinal Fluid (CSF)0.488 +/- 0.374 uMAbnormalAdult (>18 years old)Not Specified details
Methylcobalamin (HMDB0002274) Cerebrospinal Fluid (CSF)0.000221 +/- 0.00008983 uMAbnormalAdult (>18 years old)Not Specified details
Folic acid (HMDB0000121) Cerebrospinal Fluid (CSF)0.0209 +/- 0.00703 uMAbnormalAdult (>18 years old)Not Specified details
Substance P (HMDB0001897) Cerebrospinal Fluid (CSF)0.0000361 +/- 0.0000027 uMAbnormalNot SpecifiedNot Specified details
Substance P (HMDB0001897) Cerebrospinal Fluid (CSF)0.0000401 +/- 0.0000027 uMAbnormalAdult (>18 years old)Not Specified details
Substance P (HMDB0001897) Cerebrospinal Fluid (CSF)0.0000292 +/- 0.000005 uMAbnormalNot SpecifiedNot Specified details
Substance P (HMDB0001897) Cerebrospinal Fluid (CSF)0.0000351 +/- 0.0000032 uMAbnormalNot SpecifiedNot Specified details
Dynorphin A (HMDB0012935) Cerebrospinal Fluid (CSF)0.0000143 +/- 0.0000009 uMAbnormalNot SpecifiedNot Specified details
Folate deficiency
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Cystathionine (HMDB0000099) Blood1.56 (0.14 - 4.1) uMAbnormalAdult (>18 years old)Both details
Folic acid (HMDB0000121) Blood0.003 (0.0 - 0.007) uMAbnormalAdult (>18 years old)Both
  • Wu AHB. Tietz cli...
details
Formic acid intoxication
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Formic acid (HMDB0000142) Blood1630 (543 - 2717) uMAbnormalAdult (>18 years old)Female details
Friedreich's ataxia  (229300 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Thiamine (HMDB0000235) Blood0.18 +/- 0.066 uMAbnormalAdult (>18 years old)Both details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.115 +/- 0.0464 uMAbnormalAdult (>18 years old)Both details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.17 +/- 0.01 uMAbnormalNot SpecifiedNot Specified details
Vanylglycol (HMDB0001490) Cerebrospinal Fluid (CSF)0.042 +/- 0.0022 uMAbnormalNot SpecifiedNot Specified details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.1 +/- 0.01 uMAbnormalNot SpecifiedNot Specified details
L-Tryptophan (HMDB0000929) Cerebrospinal Fluid (CSF)2.4 +/- 0.13 uMAbnormalNot SpecifiedNot Specified details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.1 +/- 0.01 uMAbnormalAdult (>18 years old)Both details
Displaying diseases 241 - 250 of 652 in total