phenylketonuria : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1

Phenylketonuria, Maternal - 새창 A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
Synonyms : Maternal Phenylketonuria, PKU, Maternal, Phenylalanine-Hydroxylase Deficiency Disease, Maternal, Phenylketonuria, Pregnancy in, Phenylketonurias, Pregnancy in, Pregnancy in Phenylketonurias, in Phenylketonuria, Pregnancy, in Phenylketonurias, Pregnancy
Phenylketonurias - 새창 A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Synonyms : Deficiency Disease, Dihydropteridine Reductase, Deficiency Disease, Phenylalanine Hydroxylase, Deficiency Disease, Phenylalanine Hydroxylase, Severe, Folling Disease, Folling's Disease, Hyperphenylalaninaemia, Phenylketonuria, Phenylketonuria I