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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 ( ...
- Metabolic Disorders (National Library of Medicine)Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ClinicalTrials.gov: Mucolipidoses (National Institutes of Health)Metabolic Disorders/Clinical Trials ... Metabolic Disorders ... National Institutes of Health ... From the National Institutes of Health
- ... 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 ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- ... 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 ...
- Lipid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...