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Pulmonary vasculiti...

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SLE, dermatomyositi...

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SLE, dermatomyositis • Pulmonary vasculitis • Inherited CNT disorders : Ehlers-Danlos • Mucopolysaccharidoses, familial dysautonomia, sarcoidosis

Cardiomyopathy in n...

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Inborn errors of me...

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Inborn errors of metabolism. Glycogen storage dses (Pompe’s dse); Mucopolysaccharidosis; Disorders of fatty acid metabolism (Carnitine deficiency) ...

Mucopolysaccharidos...

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Department of Cardi...

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Department of Cardiology, Royal Children’s Hospital,. Melbourne. HEART INVOLVEMENT IN MUCOPOLYSACCHARIDOSES. Accumulation of Abnormal Deposits +/- resultant ...

Anesthesia of Child...

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Anesthesia of Child...

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Anesthesia of Children with Mucopolysaccharidosis

PPT- Informal COMP ...

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PPT- for hyperammon...

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PPT- for hyperammonaemia; Aldurazyme for Mucopolysaccharidosis; Busilvex (iv) for haematopoietic progenitor cell transplantation; Onsenal for Familial Adenomatous Polyposis

TABLE A summary of ...

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Hunter syndrome Idu...

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Hunter syndrome Iduronate-2-sulphatase Xq27-28 May benefit presymptomatic patients mouse, dog Trials planned 1 in 136,000 1 in 136,000 Mucopolysaccharidosis type IIIA Sanfilippo syndrome



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