Literature DB >> 4256381

The genetic mucolipidoses.

J W Spranger, H R Wiedemann.   

Abstract

Mesh：

Substances：

Year:  1970        PMID： 4256381     DOI： 10.1055/s-0028-1091836

Source DB:  PubMed          Journal:  Neuropadiatrie        ISSN： 0028-3797


× No keyword cloud information.
  6 in total

Review 1.  Investigation of degenerative disease of the central nervous system.

Authors:  J Wilson
Journal:  Arch Dis Child       Date:  1972-04       Impact factor: 3.791

Review 2.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings.

Authors:  A Borit; G I Sugarman; W H Spencer
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1976-01-16

4.  Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses.

Authors:  K Miyasaki
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1975

5.  Vacuolated lymphocytes in type II glycogenosis--a diagnostic approach?

Authors:  D B von Bassewitz; H J Bremer; M Bourgeois; H Gröbe; J Stoermer
Journal:  Eur J Pediatr       Date:  1977-12-30       Impact factor: 3.183

6.  Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Authors:  Reza Maroofian; Isabel Schuele; Maryam Najafi; Zeineb Bakey; Abolfazl Rad; Dinu Antony; Haleh Habibi; Miriam Schmidts
Journal:  Kidney Int Rep       Date:  2018-07-29
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.