Introduction
Pocket Metab
Impressum
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Diseases
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Symptoms
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Lab Parameters
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Authors
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Ramedis
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BH4 Patient
This is the list of current selected symptoms or laboratory findings.
In order to reduce this list click on one of this.
diarrhea
Hemoglobine [+]
liver failure
Associated Diseases
Laboratory Findings
Clinical Symptoms
GALACTOSEMIA
MIM:230400
WOLMAN DISEASE
MIM:278000
Acid lipase
Bilirubin
Chloride
Cholesteryl esters
Coagulopathy/Coagulation factors
Foam cells bone marrow
Galactitol
Galactose
Galactose-1-phosphate uridyltransferase
Galactose-1-phosphate
Glucose
Hemoglobine
Lymphocytes vacuoles
Protein urine
reducing substances urine (Clinitest)
Transaminases
Triglycerides
abdominal fullness
adrenal calcification
Amino acids, urine
anemia
anorexia
ascites
cataract
cerebral edema
cholestasis
cirrhosis or fibrosis of liver
diarrhea
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
gallstones, cholelithiasis
hypoglycemia
jaundice
large liver
large spleen
lethargy, drowsiness, malaise or sleep disorder
liver failure
malabsorption
mental retardation
metabolic acidosis
onset, infant
onset, newborn
pain, abdominal
seizures
sepsis (E.coli)
steatorrhea
tubulopathy
vomiting
weight loss
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