MUCOPOLYSACCHARIDOSES Rare Diseases Unit of the Finnish Association of People with Physical Disabilities Support for this guide was provided by Genzyme.

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Date: 2015-07-19 05:13:47 Mucopolysaccharidosis Hunter syndrome Hurler syndrome Morquio syndrome Sanfilippo syndrome Maroteaux–Lamy syndrome Genetic disorder Lysosomal storage disease Sly syndrome Health Syndromes Rare diseases		MUCOPOLYSACCHARIDOSES Rare Diseases Unit of the Finnish Association of People with Physical Disabilities Support for this guide was provided by Genzyme. Add to Reading List Source URL: www.invalidiliitto.fi Download Document from Source Website File Size: 556,69 KB Share Document on Facebook

	Exercise A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C. (a) What are the prote DocID: 1uRRy - View Document
	UCSF Benioff Children’s Hospital Oakland Northern California Comprehensive THALASSEMIA Center What is Thalassemia? Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and DocID: 1u2ik - View Document
	Dear Primary Care Provider, Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by weakness of the skeletal and respiratory muscles. SMA is a rare disorder occurring approximately 1 in 10,000 b DocID: 1tkD5 - View Document
	Idic(15) rarechromo.org Idic(15) Idic(15) is a rare chromosome disorder where people have extra genetic material (DNA) DocID: 1tabd - View Document
	PGD Preimplantation Genetic Diagnosis for Single Gene Disorders DocID: 1rhSI - View Document