Literature DB >> 6777599

Screening for organic acidurias and amino acidopathies in newborns and children.

R A Chalmers, P Purkiss, R W Watts, A M Lawson.   

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Year:  1980        PMID： 6777599     DOI： 10.1007/bf02312520

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  42 in total

1.  The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.

Authors:  K F Faull; P D Bolton; B Halpern; J Hammond; D M Danks
Journal:  Clin Chim Acta       Date:  1976-12       Impact factor: 3.786

2.  Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.

Authors:  N Gregersen; R Lauritzen; K Rasmussen
Journal:  Clin Chim Acta       Date:  1976-08-02       Impact factor: 3.786

3.  Urinary organic acids in man. III. Quantitative ranges and patterns of excretion in a normal population.

Authors:  R A Chalmers; M J Healy; A M Lawson; J T Hart; R W Watts
Journal:  Clin Chem       Date:  1976-08       Impact factor: 8.327

4.  Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism.

Authors:  N J Brandt; S Brandt; K Rasmussen; F Schnoheyder
Journal:  Br Med J       Date:  1974-11-09

5.  The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine.

Authors:  R A Chalmers; R W Watts
Journal:  Analyst       Date:  1972-12       Impact factor: 4.616

6.  Screening for amino acid disorders using prepared thin layers of cellulose on aluminium foil.

Authors:  R S Ersser
Journal:  J Med Lab Technol       Date:  1970-04

7.  Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency.

Authors:  R A Chalmers; A M Lawson; O Borud
Journal:  Clin Chim Acta       Date:  1977-06-01       Impact factor: 3.786

8.  Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a Reye's-like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarities to Jamaican vomiting sickness.

Authors:  R A Chalmers; A M Lawson
Journal:  Biomed Mass Spectrom       Date:  1979-10

9.  Measurement of 4-hydroxyphenylacetic aciduria as a screening test for small-bowel disease.

Authors:  R A Chalmers; H B Valman; M M Liberman
Journal:  Clin Chem       Date:  1979-10       Impact factor: 8.327

10.  Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.

Authors:  A G Whitelaw; P A Rogers; D A Hopkinson; H Gordon; P M Emerson; J H Darley; C Reid; M A Crawfurd
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318
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  13 in total

1.  Inherited metabolic disorders in Turkey.

Authors:  I Ozalp; T Coskun; S Tokol; G Demircin; E Mönch
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Clinical biochemistry of the neonatal period: immaturity, hypoxia, and metabolic disease.

Authors:  R A Harkness
Journal:  J Clin Pathol       Date:  1987-09       Impact factor: 3.411

3.  Introduction to the age-related diagnosis (ARD) index: an age at presentation related index for diagnostic use.

Authors:  R A Harkness; E J Harkness
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome.

Authors:  E Mayatepek; C K Seppel; G F Hoffmann
Journal:  Eur J Pediatr       Date:  1995-09       Impact factor: 3.183

5.  Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A.

Authors:  R I Kelley; B E Corkey
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

6.  Biochemical and clinical studies of Friedreich's ataxia.

Authors:  P Purkiss; M Baraitser; O Borud; R A Chalmers
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-07       Impact factor: 10.154

7.  Seven years of experience with selective screening for organic acidurias.

Authors:  W Lehnert; H Niederhoff
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

8.  Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.

Authors:  L Govaerts; L Monnens; W Tegelaers; F Trijbels; A van Raay-Selten
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

9.  Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.

Authors:  M J Bennett; G P Hosking; M F Smith; R G Gray; B Middleton
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

Authors:  A Kohlschütter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183
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