Literature DB >> 4231911

Set of simple side-room urine tests for detection of inborn errors of metabolism.

N R Buist.   

Abstract

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Year:  1968        PMID: 4231911      PMCID: PMC1991639          DOI: 10.1136/bmj.2.5607.745

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


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  18 in total

1.  A rapid assay for urinary porphyrins by thin-layer chromatography.

Authors:  C R Scott; R F Labbe; J Nutter
Journal:  Clin Chem       Date:  1967-06       Impact factor: 8.327

Review 2.  Hyperphenylalanemia.

Authors:  D Y Hsia; M E O'Flynn
Journal:  Metabolism       Date:  1967-02       Impact factor: 8.694

Review 3.  Clinical variants of galactosemia.

Authors:  D Y Hsia
Journal:  Metabolism       Date:  1967-05       Impact factor: 8.694

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

Authors:  J C Haworth; N H Barchuk
Journal:  Pediatrics       Date:  1967-04       Impact factor: 7.124

5.  Urinary screening tests in the prevention of mental deficiency.

Authors:  T L Perry; S Hansen; L MacDougall
Journal:  Can Med Assoc J       Date:  1966-07-16       Impact factor: 8.262

6.  Screening test for hydrindicuria.

Authors:  J Fischl; S Israel
Journal:  Clin Chem       Date:  1966-09       Impact factor: 8.327

7.  Separation of nucleotides, nucleosides, purines, pyrimidines and some pyrimidine degradation products by two-dimensional paper chromatography.

Authors:  J W Bradbeer; B C Jarvis
Journal:  J Chromatogr       Date:  1965-12

8.  Screening for inborn errors of metabolism associated with mental deficiency or neurologic disorders or both.

Authors:  A W Renuart
Journal:  N Engl J Med       Date:  1966-02-17       Impact factor: 91.245

9.  A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.

Authors:  E Beutler
Journal:  Blood       Date:  1966-10       Impact factor: 22.113

10.  Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.

Authors:  J A Anderson; R Fisch; E Miller; D Doeden
Journal:  J Pediatr       Date:  1966-03       Impact factor: 4.406

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  6 in total

1.  Screening for metabolic disorders in children--aminoacidopathies.

Authors:  O S Reddi
Journal:  Indian J Pediatr       Date:  1977-02       Impact factor: 1.967

Review 2.  Management of inherited metabolic disease.

Authors:  D N Raine
Journal:  Br Med J       Date:  1972-05-06

3.  Simple urine tests for screennng for inborn errors of metabolism.

Authors:  I C Verma
Journal:  Indian J Pediatr       Date:  1970-09       Impact factor: 1.967

4.  Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India.

Authors:  A R Devi; N A Rao; A H Bittles
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

5.  Aminoacidopathies in Andhra Pradesh; report of a screening programme.

Authors:  S M Uma; A Jyothy; P P Reddy; O S Reddi
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

6.  GM1 gangliosidosis: clinical and laboratory findings in eight families.

Authors:  R Giugliani; J C Dutra; M L Pereira; N Rotta; M de L Drachler; L Ohlweiller; J M Pina Neto; C E Pinheiro; D J Breda
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

  6 in total

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