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Nail patella syndrome

Normal urinary glycosaminoglycan patterns have been reported for cases of nail-patella syndrome and Farber s disease (W7) and for patients with cystic fibrosis (C25, K38 also see above). [Pg.56]

W7. Wessler, E., Determination of acidic glycosaminoglycans (mucopolysaccharides) in urine by an ion exchange method. Application to coUagenoses , gargoylism, the nail-patella syndrome and Farber s disease. Clin. Chim. Acta 16,235-243 (1967). [Pg.101]

Nail patella syndrome Nail hypoplasia, hypoplastic/absent patella AD (161200) LMXIB... [Pg.75]

Non-inherited syndrome nail patella syndrome, prune belly syndrome, Ehlers Danlos syndrome, branchio-oto-renal syndrome... [Pg.192]

Other hereditary diseases with glomerular involvement, like nail patella syndrome, collagen type III glomerulopathy, Fabry disease, and Biedl-Bardet syndrome, are very rare and beyond the scope of this chapter. [Pg.364]


See other pages where Nail patella syndrome is mentioned: [Pg.129]    [Pg.129]   
See also in sourсe #XX -- [ Pg.75 , Pg.192 , Pg.364 ]




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