Literature DB >> 21802970

Mucolipidosis II complicated by severe pulmonary hypertension.

Alexander Kovacevic, Dietmar Schranz, Thomas Meissner, Frank Pillekamp, Klaus G Schmidt.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21802970     DOI： 10.1016/j.ymgme.2011.06.026

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  3 in total

1.  TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Authors:  Alessandra Torraco; Daniela Verrigni; Teresa Rizza; Maria Chiara Meschini; Martha Elisa Vazquez-Memije; Diego Martinelli; Marzia Bianchi; Fiorella Piemonte; Carlo Dionisi-Vici; Filippo Maria Santorelli; Enrico Bertini; Rosalba Carrozzo
Journal:  Neurogenetics       Date:  2012-09-18       Impact factor: 2.660

2.  Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.

Authors:  Ritma Boruah; Ahmad Ardeshir Monavari; Tracey Conlon; Nuala Murphy; Andreea Stroiescu; Stephanie Ryan; Joanne Hughes; Ina Knerr; Ciara McDonnell; Ellen Crushell
Journal:  J Clin Med       Date:  2022-03-02       Impact factor: 4.241

3.  Mucolipidosis II: first report from Saudi Arabia.

Authors:  Majid Alfadhel; Wafaa AlShehhi; Hesham Alshaalan; Mohammed Al Balwi; Wafaa Eyaid; Wafaa Eyaida
Journal:  Ann Saudi Med       Date:  2013 Jul-Aug       Impact factor: 1.526
  3 in total

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