Literature DB >> 9377143

New developments in neonatal screening.

K Bartlett1, S J Eaton, M Pourfarzam.   

Abstract

Mesh：

Year:  1997        PMID： 9377143      PMCID： PMC1720688          DOI： 10.1136/fn.77.2.f151

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


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  11 in total

1.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

2.  Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia.

Authors:  S Pang; J Hotchkiss; A L Drash; L S Levine; M I New
Journal:  J Clin Endocrinol Metab       Date:  1977-11       Impact factor: 5.958

3.  The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals.

Authors:  D A Pettit; P S Amador; B Wolf
Journal:  Anal Biochem       Date:  1989-06       Impact factor: 3.365

4.  Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.

Authors:  D H Chace; D S Millington; N Terada; S G Kahler; C R Roe; L F Hofman
Journal:  Clin Chem       Date:  1993-01       Impact factor: 8.327

Review 5.  Methods for the investigation of hypoglycaemia with particular reference to inherited disorders of mitochondrial beta-oxidation.

Authors:  K Bartlett
Journal:  Baillieres Clin Endocrinol Metab       Date:  1993-07

6.  Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method.

Authors:  U Wendel; J Gonzales; W Hummel
Journal:  Clin Chim Acta       Date:  1993-10-15       Impact factor: 3.786

Review 7.  Mammalian mitochondrial beta-oxidation.

Authors:  S Eaton; K Bartlett; M Pourfarzam
Journal:  Biochem J       Date:  1996-12-01       Impact factor: 3.857

8.  Newborn screening for maple syrup urine disease (branched-chain ketoaciduria).

Authors:  E W Naylor; R Guthrie
Journal:  Pediatrics       Date:  1978-02       Impact factor: 7.124

9.  Newborn screening for galactosemia and other galactose metabolic defects.

Authors:  H L Levy; G Hammersen
Journal:  J Pediatr       Date:  1978-06       Impact factor: 4.406

10.  Fifteen-year experience with screening for phenylketonuria with an automated fluorometric method.

Authors:  H N Kirkman; C L Carroll; E G Moore; M S Matheson
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025
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  3 in total

Review 1.  Population newborn screening for inherited metabolic disease: current UK perspectives.

Authors:  A Green; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

Authors:  R J Pollitt; J V Leonard
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

3.  Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.

Authors:  J E Abdenur; N A Chamoles; A E Guinle; A B Schenone; A N Fuertes
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  3 in total

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