Great strides have been made in improving and safeguarding the health of mothers and children of this country. The risks of pregnancy have been considerably reduced. Many of the threats to the lives of newborn babies have been removed, and more infants survive today than ever before. Among those who survive, however, are some who are not fully equipped to grow and develop normally. At birth, some have defects which we have been unable to prevent. Correction and prevention of these defects are among the most challenging frontiers in medical research today. For my special studies this semester, I have chosen to report on one such defect--phenylketonuria. I have studied the causes, the effects, the symptoms, the detection, the treatment, ...
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylala...
In the article on the example of phenylketonuria, modern aspects of the prevention of rare diseases ...
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42497/1/10545_2004_Article_BF00711829.p...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resul...
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient ...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Introduction. Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutation in...
Phenylketonuria (PKU) is a congenital, genetically determined metabolic disorder of the essential am...
This thesis analyses 43 families with 86 cases of phenylketonuria, a rare metabolic disorder always...
AbstractPhenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by ...
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal re...
Phenylketonuria (PKU) is a rare, inherited, brain-threatening metabolic disorder found in approximat...
Phenylketonuria is an autosomal recessive inborn error of phenylalanine metabolism due to the lack o...
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal rece...
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylala...
In the article on the example of phenylketonuria, modern aspects of the prevention of rare diseases ...
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42497/1/10545_2004_Article_BF00711829.p...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resul...
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient ...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Introduction. Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutation in...
Phenylketonuria (PKU) is a congenital, genetically determined metabolic disorder of the essential am...
This thesis analyses 43 families with 86 cases of phenylketonuria, a rare metabolic disorder always...
AbstractPhenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by ...
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal re...
Phenylketonuria (PKU) is a rare, inherited, brain-threatening metabolic disorder found in approximat...
Phenylketonuria is an autosomal recessive inborn error of phenylalanine metabolism due to the lack o...
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal rece...
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylala...
In the article on the example of phenylketonuria, modern aspects of the prevention of rare diseases ...
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42497/1/10545_2004_Article_BF00711829.p...