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Clinical findings and natural history in ten unrelated families with juvenile and adult Gm1 gangliosidosis

Clinical findings and natural history in ten unrelated families with juvenile and adult Gm1 gangliosidosis

Laura Silveira-Moriyama, Carlos Eduardo Steiner, João Stein Kannebley, Laís Orrico Donnabella Bastos

ARTIGO

Inglês

We describe 12 subjects of ten unrelated families from the region of Campinas and the southern state of Minas Gerais, Brazil, who presented with juvenile (n = 4) and adult (n = 8) GM1 gangliosidosis. Data includes clinical history, physical examination, a

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Hérnia inguinal
Artigo original

DOI:

Texto completo:

Clinical findings and natural history in ten unrelated families with juvenile and adult Gm1 gangliosidosis

Laura Silveira-Moriyama, Carlos Eduardo Steiner, João Stein Kannebley, Laís Orrico Donnabella Bastos 

										

											
											
										

									

									

										

											

												
Clinical findings and natural history in ten unrelated families with juvenile and adult Gm1 gangliosidosis

											

												

														

		

							

					Laura Silveira-Moriyama, Carlos Eduardo Steiner, João Stein Kannebley, Laís Orrico Donnabella Bastos
				

		

	


												

										

										
    
										
    
											
										
    
									
    
								
    
							
    
						
    
					
    
				
    
			
    
		
    
	
    
	

    

	

		
    
			
    
				
    
					
    
								
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Journal of inherited metabolic disease reports (Fonte avulsa)