Literature DB >> 24286931

Skeletal deformities in mucolipidosis III.

Lucía Pantoja Zarza1, Carolina Diez Morrondo2.   

Abstract

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Year:  2013        PMID: 24286931     DOI: 10.1016/j.reuma.2013.10.001

Source DB:  PubMed          Journal:  Reumatol Clin        ISSN: 1699-258X


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  3 in total

1.  Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology.

Authors:  Çiğdem Seher Kasapkara; Meltem Akçaboy; Fehime Kara Eroğlu; Betül Emine Derinkuyu
Journal:  Arch Rheumatol       Date:  2017-05-25       Impact factor: 1.472

2.  Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Authors:  Abdelali Zrhidri; Saadia Amasdl; Jaber Lyahyai; Hanane Elouardi; Bouchra Chkirate; Laure Raymond; Grégory Egéa; Mohamed Taoudi; Said El Mouatassim; Abdelaziz Sefiani
Journal:  Pediatr Rheumatol Online J       Date:  2017-09-26       Impact factor: 3.054

3.  Mucolipidosis type III, a series of adult patients.

Authors:  Esmee Oussoren; David van Eerd; Elaine Murphy; Robin Lachmann; Jan C van der Meijden; Lies H Hoefsloot; Rob Verdijk; George J G Ruijter; Mario Maas; Carla E M Hollak; Janneke G Langendonk; Ans T van der Ploeg; Mirjam Langeveld
Journal:  J Inherit Metab Dis       Date:  2018-04-27       Impact factor: 4.982

  3 in total

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