Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 The nosology of the mucopolysaccharidoses.

× No keyword cloud information.

10 in total

1. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors: C A Pennock
Journal: J Clin Pathol Date: 1976-02 Impact factor: 3.411

2. The mucopolysaccharidoses.

Authors: C A Pennock; I C Barnes
Journal: J Med Genet Date: 1976-06 Impact factor: 6.318

3. The cerebellum in mucopolysaccharidosis. A histological, histochemical, and ultrastructural study.

Authors: R Doshi; S A Sandry; A W Churchill; B Brownell
Journal: J Neurol Neurosurg Psychiatry Date: 1974-10 Impact factor: 10.154

4. Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.

Authors: B S Danes; A G Bearn
Journal: Proc Natl Acad Sci U S A Date: 1970-09 Impact factor: 11.205

5. Arthritis in inherited disorders.

Authors: R C Gupta
Journal: Indian J Pediatr Date: 1973-09 Impact factor: 1.967

6. Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease).

Authors: L Toma; W Pinto; V C Rodrigues; C P Dietrich; H B Nader
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

7. Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.

Authors: H Fricker; J S O'Brien; F Vassella; E Gugler; J P Mühlethaler; M Spycher; U N Wiesmann; N Herschkowitz
Journal: J Neurol Date: 1976-10-04 Impact factor: 4.849

8. Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.

Authors: Roberto Giugliani
Journal: Genet Mol Biol Date: 2012-12-18 Impact factor: 1.771

Review 9. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

Authors: Elizabeth A Braunlin; Paul R Harmatz; Maurizio Scarpa; Beatriz Furlanetto; Christoph Kampmann; James P Loehr; Katherine P Ponder; William C Roberts; Howard M Rosenfeld; Roberto Giugliani
Journal: J Inherit Metab Dis Date: 2011-07-09 Impact factor: 4.982

10. The Hurler syndrome: a study of cultured lymphoid cell lines.

Authors: B S Danes; T H Hütteroth; H Cleve; A G Bearn
Journal: J Exp Med Date: 1972-09-01 Impact factor: 14.307

10 in total