[Progressive encephalopathy after a symptom-free period in the newborn infant, due to disorders of amino acid metabolism. Illustrated with case histories of patients with hyperglycinemia and maple syrup urine disease].
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005998:Glycine / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications; D009461:Neurologic Manifestations
D005998:Glycine
Progressieve encefalopathie na een symptoomloze periode bij de pasgeborene, ten gevolge van aminozuurstofwisselingsstoornissen. Toegelicht aan ziektegeschiedenissen van patiënten met hyperglycinemie en de "maple syrup urine disease".