A scheme for detection of metaboliElisorders utilizing commercial dip tests, spot plate tests, and paper chromatographic tests is presented. Specific details are given for preparation and development of chromatograms for routine screening of urine specimens for disorders of amino acid and carbohydrate metabolism. Specialized tests for confirming positive findings in the screening procedures are described. The results are interpreted with regard to the variations encountered in testing normal infants and children, children hospitalized with a variety of diseases, and mentally retarded children. Examples of specific and generalized aminoacidurias are given. \?VITH RECENT ADVANCES in the knowledge of amino acid, protein, and carbohydrate metab...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal peri...
Amino acids in biological fluids can be rapidly and accurately quantitated by gas chromatography. Mo...
A new approach is described for the detection of abnormal metabolites in the urine of patients with ...
The highly specialized field of inborn errors of metabolism (IEM) goes hand in hand with laboratory ...
Abstract. Inherited metabolic diseases identified currently in humans exceed 500, from which more th...
Paper partition chromatography has been used extensively to study the aminoacid excretion in the uri...
An increasing number of recessively inherited human diseases are being explained in terms of a missi...
Amino acid excretions of 82 individuals were quantitatively determined by ion-exchange chromatograph...
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), w...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
A method for screening urine for abnormalities in glyco-conjugate excretion is presented. An oligosa...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism ...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal peri...
Amino acids in biological fluids can be rapidly and accurately quantitated by gas chromatography. Mo...
A new approach is described for the detection of abnormal metabolites in the urine of patients with ...
The highly specialized field of inborn errors of metabolism (IEM) goes hand in hand with laboratory ...
Abstract. Inherited metabolic diseases identified currently in humans exceed 500, from which more th...
Paper partition chromatography has been used extensively to study the aminoacid excretion in the uri...
An increasing number of recessively inherited human diseases are being explained in terms of a missi...
Amino acid excretions of 82 individuals were quantitatively determined by ion-exchange chromatograph...
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), w...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
A method for screening urine for abnormalities in glyco-conjugate excretion is presented. An oligosa...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism ...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integra...
Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal peri...