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Glyceroluria with adrenocortical insufficiency, developmental delay and early death

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Journal of Inherited Metabolic Disease

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References

  • Børresen, A.-L., Hellerud, C., Møller, P., Søvik, O. and Berg, K. Prenatal diagnosis of glycerol-kinase deficiency associated with deletion on the short arm of the X-chromosome.Clin. Genet. 32 (1987) 254–259

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  • Guggenheim, M. A., McCabe, E. R. B., Roig, M., Goodman, S. I., Lum, G. M., Bullen, W. W. and Ringel, S. P. Glycerol kinase deficiency with neuromuscular, skeletal and adrenal abnormalities.Ann. Neurol. 7 (1980) 441–449

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  • Søvik, O., Jellum, E. and Madsen, B. Excessive glycerol excretion in a male infant with psychomotor retardation, adrenocortical insufficiency and early death.Pediatr. Res. 20 (1986) 1059 (Abstr)

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Authors and Affiliations

  1. Department of Pediatrics, University of Bergen, Haukeland Hospital, 5021, Bergen, Norway

    O. Søvik & B. Madsen

  2. Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway

    E. Jellum

Authors
  1. O. Søvik
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  2. E. Jellum
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  3. B. Madsen
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Søvik, O., Jellum, E. & Madsen, B. Glyceroluria with adrenocortical insufficiency, developmental delay and early death. J Inherit Metab Dis 11, 304–305 (1988). https://doi.org/10.1007/BF01800376

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  • DOI: https://doi.org/10.1007/BF01800376

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