Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.

Author:

Hoyme H E,Jones K L,Higginbottom M C,O'Brien J S

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Beta glucuronidase deficiency. Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis;Sly, W.S.; Quinton, B.A.; McAlister, W.H.; Rimoin, D.L.;J Pediatr,1973

2. Mucopolysaccharidosis VII: beta glucuronidase deficiency;Gehler, J.; Cantz, M.; Tolksdorf, M.; Spranger, J.; Gilbert, E.; Drube, H.;Humangenetik,1974

3. Variation in the phenotypic expression of beta glucuronidase deficiency;Beaudet, A.L.; DiFerrante, N.M.; Ferry, G.D.; Nichols, B.L.; Mullins, C.E.;J Pediatr,1975

4. The mucopolysaccharidoses;Sly, W.S.,1980

5. I-cell disease: biochemical studies;Leroy, J.G.; Ho, M.W.; MacBrinn, M.C.;Pediatr Res,1972

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1. Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?;Molecular Genetics and Metabolism;2024-03

2. A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites;American Journal of Perinatology Reports;2023-01

3. Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome);Therapeutics and Clinical Risk Management;2022-12

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