Literature DB >> 4365943

Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis.

E R Berman, N Livni, E Shapira, S Merin, I S Levij.   

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Year:  1974        PMID： 4365943     DOI： 10.1016/s0022-3476(74)80671-2

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


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  59 in total

1.  Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Authors:  Lisa Edelmann; Jianli Dong; Robert J Desnick; Ruth Kornreich
Journal:  Am J Hum Genet       Date:  2002-02-13       Impact factor: 11.025

2.  G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts.

Authors:  S Raghavan; E Leshinsky; E H Kolodny
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

3.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

4.  Mucolipidosis type IV: abnormal transport of lipids to lysosomes.

Authors:  R Bargal; G Bach
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

Review 5.  TRPMLs: in sickness and in health.

Authors:  Rosa Puertollano; Kirill Kiselyov
Journal:  Am J Physiol Renal Physiol       Date:  2009-01-21

6.  Lysosomal Calcium in Neurodegeneration.

Authors:  Xinghua Feng; Junsheng Yang
Journal:  Messenger (Los Angel)       Date:  2016-06-01

7.  Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report.

Authors:  Evelyn L Fisher; Rose A Sevcik; MaryAnn Romski
Journal:  JIMD Rep       Date:  2017-01-03

Review 8.  Invertebrate TRP proteins as functional models for mammalian channels.

Authors:  Joris Vriens; Grzegorz Owsianik; Thomas Voets; Guy Droogmans; Bernd Nilius
Journal:  Pflugers Arch       Date:  2004-12       Impact factor: 3.657

Review 9.  Mucolipin 1: endocytosis and cation channel--a review.

Authors:  Gideon Bach
Journal:  Pflugers Arch       Date:  2004-11-27       Impact factor: 3.657

10.  Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.

Authors:  Sebastian Treusch; Sarah Knuth; Susan A Slaugenhaupt; Ehud Goldin; Barth D Grant; Hanna Fares
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-15       Impact factor: 11.205
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