Literature DB >> 671487

Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.

S Bernasconi, C Pezzani, P Balestrazzi, A Marbini.   

Abstract

The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.

Entities:  

Mesh：

Year:  1978        PMID： 671487      PMCID： PMC1013681          DOI： 10.1136/jmg.15.3.219

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  [Nephrogenic diabetes insipidus. Response to DDAVP and genetic transmission in 2 family groups].

Authors:  S Bernasconi; M Savi; G Giovannelli
Journal:  Minerva Nefrol       Date:  1976 May-Jun

2.  Electromyographic studies in parents of children with spinal muscular atrophy.

Authors:  A E Emery; A R Anderson; M J Noronha
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

3.  A new genetic variant of the spinal muscular atrophies in infancy.

Authors:  H Zellweger; E Hanhart; H J Schneider
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

4.  The genetic heterogeneity of spinal muscular atrophy (SMA).

Authors:  H Zellweger
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02

5.  A new polygenic disturbance: cystinuria, leucinuria and spinal muscular atrophy.

Authors:  H Radu; I Tanase-Mogoş; A M Roşu; I Killyen; V Ionescu
Journal:  J Neurol       Date:  1974       Impact factor: 4.849

6.  Progressive neural muscular atrophy in a case of phenylketonuria.

Authors:  C Meier; J Lütschg; F Vassella; A Bischoff
Journal:  Dev Med Child Neurol       Date:  1975-10       Impact factor: 5.449
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.