Literature DB >> 2852736

Glyceroluria with adrenocortical insufficiency, developmental delay and early death.

O Søvik1, E Jellum, B Madsen.   

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Year:  1988        PMID： 2852736     DOI： 10.1007/bf01800376

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


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  2 in total

1.  Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.

Authors:  M A Guggenheim; E R McCabe; M Roig; S I Goodman; G M Lum; W W Bullen; S P Ringel
Journal:  Ann Neurol       Date:  1980-05       Impact factor: 10.422

2.  Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.

Authors:  A L Børresen; C Hellerud; P Møller; O Søvik; K Berg
Journal:  Clin Genet       Date:  1987-10       Impact factor: 4.438
  2 in total
  1 in total

Review 1.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982
  1 in total

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