[Remember hereditary metabolic diseases in children in which no satisfactory diagnosis can be established].
Bakker
H D
HD
Academisch Medisch Centrum-Emma Kinderziekenhuis/het Kinder AMC, Amsterdam.
D000581:Amidohydrolases / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors; D043523:Biotinidase; D002648:Child; D002675:Child, Preschool; D003067:Coenzymes; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008239:Lysine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008667:Metalloproteins / Q000378:metabolism; D008982:Molybdenum / Q000172:deficiency; D000090006:Molybdenum Cofactors; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis; D011621:Pteridines / Q000378:metabolism
D000581:Amidohydrolases; D043523:Biotinidase; D003067:Coenzymes; D008239:Lysine; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin
Denk bij zieke kinderen bij wie uiteindelijk geen bevredigende diagnose wordt gesteld, aan een erfelijke stofwisselingsziekte.