Literature DB >> 3479053

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

P D Maaswinkel-Mooy1, B J Poorthuis, H H van Gelderen, J J van de Kamp.   

Abstract

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.

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Year:  1987        PMID: 3479053      PMCID: PMC1778671          DOI: 10.1136/adc.62.10.1066

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  4 in total

1.  Nervous system involvement in type IV glycogenosis.

Authors:  K R McMaster; J M Powers; G R Hennigar; H J Wohltmann; G H Farr
Journal:  Arch Pathol Lab Med       Date:  1979-03       Impact factor: 5.534

2.  Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Carnitine metabolism and inborn errors.

Authors:  A G Engel; C J Rebouche
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Dicarboxylic aciduria during ketotic phases in various types of glycogen storage disease.

Authors:  J E Pettersen; A Winsnes
Journal:  Acta Paediatr Scand       Date:  1981
  4 in total
  3 in total

1.  Hepatocellular carcinoma in glycogen storage disease type IV.

Authors:  R A de Moor; J J Schweizer; B van Hoek; M Wasser; R Vink; P D Maaswinkel-Mooy
Journal:  Arch Dis Child       Date:  2000-06       Impact factor: 3.791

2.  Cerebral blood flow velocity changes after rapid administration of surfactant.

Authors:  H Halliday; B Robertson
Journal:  Arch Dis Child       Date:  1992-04       Impact factor: 3.791

3.  Cerebral blood flow velocity changes after rapid administration of surfactant.

Authors:  F Cowan; A Whitelaw; D Wertheim; M Silverman
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

  3 in total

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