苯丙酮尿症(PKU)是最常见的先天性氨基酸代谢异常疾病,会引起智力发育迟缓、肤色异常、小头畸形、语言障碍、癫痫等症状,但通过及时诊断,并结合有效的治疗方法能使PKU患者保持相对正常发育.目前,利用细菌抑制、化学荧光、酶定量、高效液相、质谱等技术对血液苯丙氨酸(Phe)水平测定,实现PKU筛查和诊断的方法已经比较成熟.随着分子生物学的发展,PKU的基因诊断、尿液代谢物分析方法也被成功建立和发展.就PKU的筛查和诊断方法的最新研究进展进行综述.中国科技核心期刊(ISTIC)05298-3023
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
The aim of this study was to evaluate the National Neonatal Screening Program in Sergipe State in Br...
目的 探讨苯丙酮尿症(PKU)的诊断、治疗、预后及误诊原因.方法 对1993年1月-2008年10月在本院住院确诊为PKU 39例患儿[男21例,女18例;起病年龄(8.79±11....
Phenylketonuria is an inborn error of autosomal recessive genetic metabolism, with partial or total ...
Bu çalışmada, Fenilketonüri tanısı konulmuş hasta bir çocuğa sahip 20 ailede, hasta çocuğun kardeşle...
Summary: A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluate...
Phenylketonuria is an inborn error of metabolism of autosomal recessive inheritance, with partial or...
Abstract Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was c...
Phenylketonuria (PKU) is commonly included in the newborn screening panel of most countries, with va...
Amaç: Bu çalışmanın amacı Adana ilinde Halk Sağlığı Müdürlüğü tarafından yürütülen yenidoğan tarama ...
Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program....
Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. W...
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to ...
Abstract. This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand f...
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
The aim of this study was to evaluate the National Neonatal Screening Program in Sergipe State in Br...
目的 探讨苯丙酮尿症(PKU)的诊断、治疗、预后及误诊原因.方法 对1993年1月-2008年10月在本院住院确诊为PKU 39例患儿[男21例,女18例;起病年龄(8.79±11....
Phenylketonuria is an inborn error of autosomal recessive genetic metabolism, with partial or total ...
Bu çalışmada, Fenilketonüri tanısı konulmuş hasta bir çocuğa sahip 20 ailede, hasta çocuğun kardeşle...
Summary: A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluate...
Phenylketonuria is an inborn error of metabolism of autosomal recessive inheritance, with partial or...
Abstract Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was c...
Phenylketonuria (PKU) is commonly included in the newborn screening panel of most countries, with va...
Amaç: Bu çalışmanın amacı Adana ilinde Halk Sağlığı Müdürlüğü tarafından yürütülen yenidoğan tarama ...
Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program....
Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. W...
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to ...
Abstract. This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand f...
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in ...
The aim of this study was to evaluate the National Neonatal Screening Program in Sergipe State in Br...
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