Literature DB >> 22495880

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Maria Francisca Coutinho1, Liliana da Silva Santos, Katta Mohan Girisha, Kapaettu Satyamoorthy, Lúcia Lacerda, Maria João Prata, Sandra Alves.   

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Year:  2012        PMID： 22495880     DOI： 10.1002/ajmg.a.35295

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


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  5 in total

1.  I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Authors:  Ankur Singh; Rajniti Prasad; Aditya Kumar Gupta; Anil Sharma; Sandra Alves; Maria Francisca Coutinho; Seema Kapoor; Om Prakash Mishra
Journal:  Indian J Pediatr       Date:  2016-10-27       Impact factor: 1.967

2.  Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Authors:  Yi Qian; Eline van Meel; Heather Flanagan-Steet; Alex Yox; Richard Steet; Stuart Kornfeld
Journal:  J Biol Chem       Date:  2014-12-11       Impact factor: 5.157

3.  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

4.  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

Review 5.  Mucolipidoses Overview: Past, Present, and Future.

Authors:  Shaukat A Khan; Saori C Tomatsu
Journal:  Int J Mol Sci       Date:  2020-09-17       Impact factor: 5.923
  5 in total

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