Literature DB >> 3126360

Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation?

S Portoian-Shuhaiber1, K Gumaa, H Hamalawi, O K Malla, A S Teebi, A Al-Rashied.   

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Year:  1987        PMID： 3126360     DOI： 10.1007/bf01799983

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


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  4 in total

1.  Familial occurrence of idiopathic calcification of cerebral capillaries.

Authors:  M S BOWMAN
Journal:  Am J Pathol       Date:  1954 Jan-Feb       Impact factor: 4.307

2.  Familial idiopathic cerebral calcifications.

Authors:  F Boller; M Boller; J Gilbert
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-03       Impact factor: 10.154

3.  Familial calcification of the basal ganglions: a metabolic and genetic study.

Authors:  M A Moskowitz; R N Winickoff; E R Heinz
Journal:  N Engl J Med       Date:  1971-07-08       Impact factor: 91.245

4.  Familial steatorrhoea with calcification of the basal ganglia and mental retardation.

Authors:  R Cockel; E E Hill; D I Rushton; B Smith; C F Hawkins
Journal:  Q J Med       Date:  1973-10
  4 in total
  1 in total

Review 1.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  1 in total

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