Biomaterial Database

A simple chromatographic screening test for the detection of galactosemia in newborn infants. 1967

J C Haworth, and N H Barchuk

UI	MeSH Term	Description	Entries
D007202	Indicators and Reagents	Substances used for the detection, identification, analysis, etc. of chemical, biological, or pathologic processes or conditions. Indicators are substances that change in physical appearance, e.g., color, at or approaching the endpoint of a chemical titration, e.g., on the passage between acidity and alkalinity. Reagents are substances used for the detection or determination of another substance by chemical or microscopical means, especially analysis. Types of reagents are precipitants, solvents, oxidizers, reducers, fluxes, and colorimetric reagents. (From Grant & Hackh's Chemical Dictionary, 5th ed, p301, p499)	Indicator,Reagent,Reagents,Indicators,Reagents and Indicators
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007232	Infant, Newborn, Diseases	Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.	Neonatal Diseases,Disease, Neonatal,Diseases, Neonatal,Neonatal Disease
D008297	Male		Males
D008403	Mass Screening	Organized periodic procedures performed on large groups of people for the purpose of detecting disease.	Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D002854	Chromatography, Paper	An analytical technique for resolution of a chemical mixture into its component compounds. Compounds are separated on an adsorbent paper (stationary phase) by their varied degree of solubility/mobility in the eluting solvent (mobile phase).	Paper Chromatography,Chromatographies, Paper,Paper Chromatographies
D005260	Female		Females
D005693	Galactosemias	A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)	Galactokinase Deficiency Disease,Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,UDPglucose 4-Epimerase Deficiency Disease,Classic Galactosemia,Deficiency Disease, Galactokinase,Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase,Deficiency Disease, UDP-Galactose-4-Epimerase,Deficiency Disease, UDPglucose 4-Epimerase,Epimerase Deficiency Galactosemia,GALE Deficiency,GALK Deficiency,GALT Deficiency,Galactokinase Deficiency,Galactose Epimerase Deficiency,Galactose-1-Phosphate Uridyltransferase Deficiency,Galactose-1-Phosphate Uridylyltransferase Deficiency,Galactosemia,Galactosemia 2,Galactosemia 3,Galactosemia III,Galactosemia, Classic,Hereditary Galactokinase Deficiency,UDP-Galactose-4-Epimerase Deficiency,UDP-Galactose-4-Epimerase Deficiency Disease,UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease,Classic Galactosemias,Deficiencies, GALE,Deficiencies, GALK,Deficiencies, GALT,Deficiencies, Galactokinase,Deficiencies, Galactose Epimerase,Deficiencies, Galactose-1-Phosphate Uridyltransferase,Deficiencies, Galactose-1-Phosphate Uridylyltransferase,Deficiencies, Hereditary Galactokinase,Deficiencies, UDP-Galactose-4-Epimerase,Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase,Deficiency Disease, UDP Galactose 4 Epimerase,Deficiency Disease, UDPglucose 4 Epimerase,Deficiency Diseases, UDP-Galactose-4-Epimerase,Deficiency Galactosemia, Epimerase,Deficiency Galactosemias, Epimerase,Deficiency, GALE,Deficiency, GALK,Deficiency, GALT,Deficiency, Galactokinase,Deficiency, Galactose Epimerase,Deficiency, Galactose-1-Phosphate Uridyltransferase,Deficiency, Galactose-1-Phosphate Uridylyltransferase,Deficiency, Hereditary Galactokinase,Deficiency, UDP-Galactose-4-Epimerase,Epimerase Deficiency Galactosemias,GALE Deficiencies,GALK Deficiencies,GALT Deficiencies,Galactokinase Deficiencies,Galactokinase Deficiencies, Hereditary,Galactokinase Deficiency Diseases,Galactokinase Deficiency, Hereditary,Galactose 1 Phosphate Uridyl Transferase Deficiency Disease,Galactose 1 Phosphate Uridyltransferase Deficiency,Galactose 1 Phosphate Uridylyltransferase Deficiency,Galactose Epimerase Deficiencies,Galactose-1-Phosphate Uridyltransferase Deficiencies,Galactose-1-Phosphate Uridylyltransferase Deficiencies,Galactosemia 2s,Galactosemia 3s,Galactosemia IIIs,Galactosemia, Epimerase Deficiency,Galactosemias, Classic,Galactosemias, Epimerase Deficiency,Hereditary Galactokinase Deficiencies,UDP Galactose 4 Epimerase Deficiency,UDP Galactose 4 Epimerase Deficiency Disease,UDP-Galactose-4-Epimerase Deficiencies,UDP-Galactose-4-Epimerase Deficiency Diseases,UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency,UDPglucose 4 Epimerase Deficiency Disease,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease,Uridyltransferase Deficiencies, Galactose-1-Phosphate,Uridyltransferase Deficiency, Galactose-1-Phosphate,Uridylyltransferase Deficiencies, Galactose-1-Phosphate,Uridylyltransferase Deficiency, Galactose-1-Phosphate
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man