Literature DB >> 4698934

A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.

J Passwell, L Zipperkowski, D Katznelson, A Szeinberg, M Crispin, S Pollak, R Goodman, M Bat-Miriam, B E Cohen.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1973        PMID: 4698934     DOI: 10.1016/s0022-3476(73)80122-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  4 in total

1.  The Sjögren-Larsson syndrome. A case report.

Authors:  U Beringer; M Mumenthaler; L Zala
Journal:  J Neurol       Date:  1977-02-17       Impact factor: 4.849

2.  A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

Authors:  J Clayton-Smith; D Donnai
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

3.  Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome.

Authors:  J E Deal; T M Barratt; M J Dillon
Journal:  Pediatr Nephrol       Date:  1990-07       Impact factor: 3.714

4.  Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Authors:  M Münke; K Kruse; M Goos; H H Ropers; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.