Literature DB >> 2870020

Two different forms of maple syrup urine disease in a single family.

U Langenbeck.   

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Year:  1986        PMID： 2870020     DOI： 10.1007/bf00291898

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  5 in total

1.  Inheritance of metachromatic leukodystrophy.

Authors:  U Langenbeck; P Dunker; R Heipertz; H Pilz
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025

2.  Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.

Authors:  P L Chang; R G Davidson
Journal:  Proc Natl Acad Sci U S A       Date:  1983-12       Impact factor: 11.205

3.  Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

Authors:  D J Danner; N Armstrong; S C Heffelfinger; E T Sewell; J H Priest; L J Elsas
Journal:  J Clin Invest       Date:  1985-03       Impact factor: 14.808

4.  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

5.  [Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency].

Authors:  J M Saudubray; O Amédée-Manesme; A Munnich; H Ogier; E Depondt; C Charpentier; F X Coudé; F Rey; J Frézal
Journal:  Arch Fr Pediatr       Date:  1982-12
  5 in total

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