| D007231 |
Infant, Newborn |
An infant during the first 28 days after birth. |
Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants |
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| D010649 |
Phenylalanine |
An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. |
Endorphenyl,L-Phenylalanine,Phenylalanine, L-Isomer,L-Isomer Phenylalanine,Phenylalanine, L Isomer |
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| D010661 |
Phenylketonurias |
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). |
Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias |
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| D001800 |
Blood Specimen Collection |
The taking of a blood sample to determine its character as a whole, to identify levels of its component cells, chemicals, gases, or other constituents, to perform pathological examination, etc. |
Blood Specimen Collections,Collection, Blood Specimen,Collections, Blood Specimen,Specimen Collection, Blood,Specimen Collections, Blood |
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| D003462 |
Cuba |
An island in the Greater Antilles in the West Indies, south of Florida. With the adjacent islands it forms the Republic of Cuba. Its capital is Havana. It was discovered by Columbus on his first voyage in 1492 and conquered by Spain in 1511. It has a varied history under Spain, Great Britain, and the United States but has been independent since 1902. The name Cuba is said to be an Indian name of unknown origin but the language that gave the name is extinct, so the etymology is a conjecture. (From Webster's New Geographical Dictionary, 1988, p302 & Room, Brewer's Dictionary of Names, 1992, p132) |
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| D005470 |
Fluorometry |
An analytical method for detecting and measuring FLUORESCENCE in compounds or targets such as cells, proteins, or nucleotides, or targets previously labeled with FLUORESCENCE AGENTS. |
Fluorimetry,Fluorometric Analysis,Analysis, Fluorometric |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D012680 |
Sensitivity and Specificity |
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) |
Specificity,Sensitivity,Specificity and Sensitivity |
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| D015997 |
Neonatal Screening |
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. |
Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant |
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