[Pallister-Killian syndrome and 12p tetrasomy: increased LDH-B activity].
Antich Femenias
J
J
Servicio de Neuropedriatría, Hospital Universitario San Carlos Madrid.
Briones Godino
M P
MP
Vilaseca Busca
M A
MA
Girós Blasco
M L
ML
Campos Castelló
J
J
Jaume Roig
B
B
Clusellas Casals
N
N
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D008297:Male; D009030:Mosaicism; D013577:Syndrome
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase
Síndrome de Pallister-Killian y tetrasomia 12p: incremento de la actividad de la LDH-B.