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Mucolipidosis type II
- ... cell disease Inclusion cell disease MLII Mucolipidosis II Mucolipidosis type II Genetic Testing Registry: Mucolipidosis type II Mucolipidosis type II National Organization for Rare Disorders ( ...
- ... GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Citation ... the GNPTG gene that cause mucolipidosis type III gamma. Gene. 2014 Feb 10;535( ...
- ... Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of ...
- ... Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of ...
- ... condition. Cherry red spot myoclonus syndrome Mucolipidosis I Mucolipidosis type I ... Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A. Type II sialidosis: review of the clinical spectrum and identification ...