Literature DB >> 2471466

Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy.

J Jaeken.   

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Year:  1989        PMID: 2471466      PMCID: PMC1792051          DOI: 10.1136/adc.64.5.764-b

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


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  3 in total

1.  Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5).

Authors:  H Stibler; S Borg; M Joustra
Journal:  Alcohol Clin Exp Res       Date:  1986-10       Impact factor: 3.455

2.  Disialotransferrin developmental deficiency syndrome.

Authors:  B Kristiansson; M Andersson; B Tonnby; B Hagberg
Journal:  Arch Dis Child       Date:  1989-01       Impact factor: 3.791

3.  Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.

Authors:  B N Harding; D B Dunger; D B Grant; M Erdohazi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-03       Impact factor: 10.154

  3 in total
  4 in total

Review 1.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.

Authors:  S Albrecht; M C Schneider; J Belmont; D L Armstrong
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

3.  Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

Authors:  S P Horslen; P T Clayton; B N Harding; N A Hall; G Keir; B Winchester
Journal:  Arch Dis Child       Date:  1991-09       Impact factor: 3.791

4.  Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Authors:  P T Clayton; B G Winchester; G Keir
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

  4 in total

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