Literature DB >> 16245

[An exceptional case of a family suffering from metachromatic leukocystrophy. Very low level of arylsulfatase A and cerebroside sulfate sulfatase in healthy subjects].

J C Turpin, C Bergondi, H Haidar, G Dubois.   

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Year:  1977        PMID： 16245

Source DB:  PubMed          Journal:  Nouv Presse Med        ISSN： 0301-1518


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  2 in total

1.  Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.

Authors:  J Kappler; P Leinekugel; E Conzelmann; W J Kleijer; A Kohlschütter; T Tønnesen; M Rochel; F Freycon; P Propping
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Maple syrup urine disease: two different forms within a single family.

Authors:  J Frézal; O Amédée-Manesme; G Mitchell; S Heuertz; F Rey; J Rey; J M Saudubray
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  2 in total

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