Low creatinine: the diagnostic clue for a treatable neurologic disorder.
Bodamer
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OA
Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital Vienna, Vienna, Austria. olaf.bodamer@meduniwien.ac.at
Iqbal
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F
Mühl
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A
Hung
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C
Prayer
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D
Ratschmann
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R
Item
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BC
D015415:Biomarkers / Q000097:blood / Q000652:urine; D003401:Creatine / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D003404:Creatinine / Q000097:blood* / Q000378:metabolism / Q000652:urine; D005998:Glycine / Q000031:analogs & derivatives / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000188:drug therapy* / Q000201:enzymology
D015415:Biomarkers; D003404:Creatinine; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D003401:Creatine; D005998:Glycine