搜索结果: 1-11 共查到“Phenylketonuria”相关记录11条 . 查询时间(0.073 秒)
Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model
phenylketonuria inborn error of metabolism large neutral amino acids mouse model neurotransmitters brain biochemistry treatment
2018/12/18
Background: Phenylketonuria treatment consists mainly of a Phe-restricted diet, which leads to suboptimal neurocognitive and psychosocial outcomes. Supplementation of large neutral amino acids (LNAAs)...
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial
inborn errors of amino acid metabolism phenylalanine tyrosine threonine medical food sapropterin dihydrochloride executive function
2018/12/3
Background: To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet. The diet restricts intake of Phe from natural ...
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial
inborn errors of amino acid metabolism phenylalanine tyrosine threonine medical food sapropterin dihydrochloride executive function
2018/12/13
Background: To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet. The diet restricts intake of Phe from natural ...
Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations
genotype plasma phenylalanine protein
2016/6/13
Women with untreated phenylketonuria (PKU)
often have poor reproductive outcomes.
Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets
Phenylketonuria PKU tyrosine
2016/6/12
Treatment of phenylketonuria (PKU) consists
of restriction of natural protein and provision of a protein substitute
that lacks phenylalanine but is enriched in tyrosine. Large
and unexplained diffe...
Decreased serum ubiquinone-10 concentrations in phenylketonuria
Phenylketonuria ubiquinone-10 tyrosine
2016/6/1
Ubiquinone-10 is a lipid with important metabolic
functions that may be decreased in phenylketonuria (PKU) because
patients with PKU consume diets restricted in natural proteins.
Effects of dietary mixtures of amino acids on fetal growth and maternal and fetal amino acid pools in experimental maternal phenylketonuria
Phenylketonuria phenylalanine brain
2016/5/31
Branched-chain amino acids have been reported
to improve fetal brain development in a rat model in which
maternal phenylketonuria (PKU) is induced by the inclusion of
an inhibitor of phenylalanine ...
Phenylketonuria and its Dietary Therapy in Children
Phenylketonuria Phenylalanine Diet Hyperphenylalaninemia Phenylalanine hydroxilase
2009/12/15
Phenylketonuria (PKU) is the most common autosomal recessive disease. Hyperphenylalaninemia is caused by deficiency or inactivity of the phenylalanine hydroxylase in liver. In this disorder phenylalan...
苯丙酮尿症分子遗传学研究进展Advances in the Studies of Molecular Heredity of Phenylketonuria
苯丙酮尿症 苯丙氨酸羟化酶 基因 分子遗传
2008/1/8
摘要
苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。文章综述了苯丙酮尿症中的苯丙氨酸羟化酶基因的定位、结构、突变、调控以及突变基因的体外表达和苯丙氨酸羟化酶的三维结构特点等分子遗传学进展，阐述了苯丙氨酸羟化酶基因的突变对苯丙氨酸羟化酶的体外表达及其三维结构的影响, 以及部分基因型与表型相关的分子机制。 Abstract: Phenylketonuria(PKU) is one ...
苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究Mutations in Exon 7 of the Phenylalanine Hydroxylase（PAH）Gene in Chinese Patients with Phenylketonuria
苯丙氨酸羟化酶 外显子 基因突变 单链构象多态性 序列分析
2008/1/6
为探讨中国苯丙酮尿症（PKU）人群中苯丙氨酸羟化酶（PAH）基因外显子7的突变特征，对147例PKU患儿的294个PAH基因外显子7以及两侧部分内含子序列，应用PCR－单链构象多态性（SSCP）分析及基因序列分析的方法进行了筛查和确定。共发现13种突变基因：G239D、R241C、R241fs、R243Q、G247S、G247V、R252Q、L255S、R261Q、M276K、E280G、P281...
Lipophilic antioxidants in patients with phenylketonuria
Phenylketonuria tocopherol ubiquinone-10
2016/12/28
Low serum ubiquinone-10 concentrations have been described in phenylketonuric patients fed natural-protein-restricted diets. Such low concentrations may be related to increased free radical damage.