Literature DB >> 18203164

Molecular order in mucolipidosis II and III nomenclature.

Sara S Cathey1, Mariko Kudo, Stephan Tiede, Annick Raas-Rothschild, Thomas Braulke, Michael Beck, Harold A Taylor, William M Canfield, Jules G Leroy, Elizabeth F Neufeld, Victor A McKusick.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18203164     DOI： 10.1002/ajmg.a.32193

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  22 in total

Review 1.  Molecular analysis of the GlcNac-1-phosphotransferase.

Authors:  T Braulke; S Pohl; S Storch
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982

2.  Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.

Authors:  Taciane Alegra; Fernanda Sperb-Ludwig; Nicole Ruas Guarany; Erlane M Ribeiro; Charles M Lourenço; Chong Ae Kim; Eugênia R Valadares; Marcial Francis Galera; Angelina X Acosta; Dafne Dain Gandelman Horovitz; Ida Vanessa Doederlein Schwartz
Journal:  J Pediatr Genet       Date:  2019-09-24

3.  Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Authors:  Yu Wang; Jun Ye; Wen-Juan Qiu; Lian-Shu Han; Xiao-Lan Gao; Li-Li Liang; Xue-Fan Gu; Hui-Wen Zhang
Journal:  Acta Pharmacol Sin       Date:  2018-06-05       Impact factor: 6.150

4.  Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.

Authors:  Darcy A Kerr; Vincent A Memoli; Sara S Cathey; Brent T Harris
Journal:  Arch Pathol Lab Med       Date:  2011-04       Impact factor: 5.534

5.  Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Authors:  S S Cathey; J G Leroy; T Wood; K Eaves; R J Simensen; M Kudo; R E Stevenson; M J Friez
Journal:  J Med Genet       Date:  2009-07-16       Impact factor: 6.318

6.  Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.

Authors:  Troy C Lund; Sara S Cathey; Weston P Miller; Mary Eapen; Martin Andreansky; Christopher C Dvorak; Jeffrey H Davis; Jignesh D Dalal; Steven M Devine; Gretchen M Eames; William S Ferguson; Roger H Giller; Wensheng He; Joanne Kurtzberg; Robert Krance; Emmanuel Katsanis; Victor A Lewis; Indira Sahdev; Paul J Orchard
Journal:  Biol Blood Marrow Transplant       Date:  2014-07-10       Impact factor: 5.742

7.  I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.

Authors:  Rachel Edmiston; Stuart Wilkinson; Simon Jones; Karen Tylee; Alexander Broomfield; Iain A Bruce
Journal:  JIMD Rep       Date:  2018-09-13

8.  Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.

Authors:  Katrin Kollmann; Jan Malte Pestka; Sonja Christin Kühn; Elisabeth Schöne; Michaela Schweizer; Kathrin Karkmann; Takanobu Otomo; Philip Catala-Lehnen; Antonio Virgilio Failla; Robert Percy Marshall; Matthias Krause; Rene Santer; Michael Amling; Thomas Braulke; Thorsten Schinke
Journal:  EMBO Mol Med       Date:  2013-10-15       Impact factor: 12.137

9.  Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

Authors:  Rachel A Idol; David F Wozniak; Hideji Fujiwara; Carla M Yuede; Daniel S Ory; Stuart Kornfeld; Peter Vogel
Journal:  PLoS One       Date:  2014-10-14       Impact factor: 3.240

10.  Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors:  Sonja A Rasmussen; Ariel Pomputius; Joanna S Amberger; Ada Hamosh
Journal:  Am J Med Genet A       Date:  2021-06-23       Impact factor: 2.802
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.