Literature DB >> 407120

Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency.

J P Van Biervliet, L Bruinvis, C van der Heiden, D Ketting, S K Wadman, J L Willemse, L A Monnens.   

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Year:  1977        PMID: 407120     DOI: 10.1111/j.1469-8749.1977.tb08376.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


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  12 in total

1.  Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.

Authors:  C Erasmus; L J Mienie; C J Reinecke; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 2.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

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

Authors:  R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

4.  D-2-hydroxyglutaric aciduria: case report and biochemical studies.

Authors:  R A Chalmers; A M Lawson; R W Watts; A S Tavill; J P Kamerling; E Hey; D Ogilvie
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  Lactic acidosis due to pyruvate carboxylase deficiency.

Authors:  J C Haworth; B H Robinson; T L Perry
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase.

Authors:  J P Van Biervliet; M Duran; S K Wadman; J F Koster; A van Rossum
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

Review 7.  Therapy of mitochondrial disorders.

Authors:  H Przyrembel
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

8.  Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.

Authors:  S Krywawych; G Katz; A M Lawson; S Wyatt; D P Brenton
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

9.  Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria.

Authors:  J Oizumi; K N Shaw; T A Giudici; M Carter; G N Donnell; W G Ng
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

10.  Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.

Authors:  R A Chalmers
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

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