Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders pathology of which is usually attributed to excessive tissue storage or abnormally high circulating concentrations of a specific not degraded metabolic substance. Early diagnosis can prevent irreversible complications of some of these disorders. Errors in carbohydrate metabolism belong to this category of disturbances. Sugars of clinical interest are all reducing sugars. The aim of this study was determination of the incidence rate and causes of positive Benedict's test in hospitalized or outpatient children under 14 years of age. In addition, identification of interfering substances that could cause false positive results and the necessity of Be...
Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorde...
A method for screening urine for abnormalities in glyco-conjugate excretion is presented. An oligosa...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
A scheme for detection of metaboliElisorders utilizing commercial dip tests, spot plate tests, and p...
The highly specialized field of inborn errors of metabolism (IEM) goes hand in hand with laboratory ...
An increasing number of recessively inherited human diseases are being explained in terms of a missi...
Background: Metabolomics is becoming an important tool in clinical research and the diagnosis of hum...
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzyma...
Abstract Background Uric acid is the metabolic end product of purine metabolism in humans. Altered s...
Background: In this study we have looked at the reliability of a multi-sugar test in a pediatric pat...
PubMedID: 28085674Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively ...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Contains fulltext : 154390.pdf (publisher's version ) (Closed access)BACKGROUND: T...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorde...
A method for screening urine for abnormalities in glyco-conjugate excretion is presented. An oligosa...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Background: Inborn errors of metabolism is a general term applied to numerous genetic disorders path...
A scheme for detection of metaboliElisorders utilizing commercial dip tests, spot plate tests, and p...
The highly specialized field of inborn errors of metabolism (IEM) goes hand in hand with laboratory ...
An increasing number of recessively inherited human diseases are being explained in terms of a missi...
Background: Metabolomics is becoming an important tool in clinical research and the diagnosis of hum...
CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzyma...
Abstract Background Uric acid is the metabolic end product of purine metabolism in humans. Altered s...
Background: In this study we have looked at the reliability of a multi-sugar test in a pediatric pat...
PubMedID: 28085674Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively ...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Contains fulltext : 154390.pdf (publisher's version ) (Closed access)BACKGROUND: T...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...
Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorde...
A method for screening urine for abnormalities in glyco-conjugate excretion is presented. An oligosa...
BACKGROUND: The widespread use of routine biochemical assays has led to increased incidental finding...