Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia.
Gungor
N
N
Tokath
A
A
Coskun
T
T
Ozguc
M
M
Ozalp
I
I
D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D012016:Reference Values
D010649:Phenylalanine