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Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

✍ Scribed by S. Catarzi; L. Giunti; F. Papadia; O. Gabrielli; R. Guerrini; M.A. Donati; M. Genuardi; A. Morrone


Book ID
116989680
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
435 KB
Volume
105
Category
Article
ISSN
1096-7192

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## Abstract Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism, in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy to mere renal stones in late adultho