- ►bmj.com [PDF] T Leslie, MAR Siddiqui, DA Aitken, CM … - British Medical Journal, 2005 - bjo.bmj.com Subconjunctival corticosteroid injection for the treatment of non- necrotising
anterior scleritis Scleritis commonly is a recurrent disease that requires long
term immunosuppressive treat- ment that can be associated with significant ... Cited by 1 - Related articles - All 8 versions
E Defraia, A Marinelli, A Antonini, V Giuntini - Journal Information, 2005 - angle.org Morquio syndrome or MPS4A is an autosomal recessive inherited metabolic disease,
due to a deficiency of N-acetil-galactosamine-6-sulfatase (OMIM 253000).
Hypoplastic odontoid processes causing atlantoaxial subluxation and ... Cited by 4 - Related articles - All 6 versions
K Ullrich - European Journal of Pediatrics, 1994 - Springer Patients with lysosomal storage diseases present progres- sive, well known
symptoms like facial dysmorphism, or- ganomegaly, ocular/skeletal abnormalities
and neurologi- cal deficits. Familiar check lists exist for all these ... Cited by 4 - Related articles - BL Direct - All 2 versions
S Tomatsu, C Vogler, AM Montaño, M … - Molecular Genetics and Metabolism, 2007 - Elsevier Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by
deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), required for
degradation of keratan sulfate and chondroitin-6-sulfate. In order to study ... Cited by 5 - Related articles - BL Direct - All 3 versions
- ►oxfordjournals.org S Tomatsu, AM Montano, A Ohashi, MA … - Human Molecular Genetics, 2008 - Oxford Univ Press Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by
a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to
accumulation of keratan sulfate (KS) and chrondroitin-6-sulfate. The ... Cited by 7 - Related articles - BL Direct - All 6 versions
H Olsen, K Baggesen, AK Sjolie - Ophthalmic Genetics, 1993 - informahealthcare.com ABSTRACT. Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are
de- scribed. In addition to the characteristic dwarfism with skeletal
deformities, odontoid anomalies, hearing loss and corneal clouding, the ... Cited by 7 - Related articles - BL Direct - All 4 versions
- ►clinchem.org DS Millington - Clinical Chemistry, 2005 - Am Assoc Clin Chem The concept of screening newborns for inherited metabolic disorders was the
brainchild of Robert Guthrie, an upstate New York microbiologist with a passion
to prevent the devastating and irreversible neurologic damage sustained by ... Cited by 7 - Related articles - All 4 versions
- ►nih.gov Z Urbán, CD Boyd - The American Journal of Human Genetics, 2000 - Elsevier Resilience and elastic recoil are properties conferred on all vertebrate elastic
tissues by elastic fibers (Cleary and Gibson 1996; Debelle and Tamburro 1999).
These complex extracellular matrix biopolymers, assembled from 15 different ... Cited by 7 - Related articles - BL Direct - All 6 versions
M Iwamoto, Y Nawa, IH Maumenee, J Young- … - Graefe's Archive for Clinical and Experimental …, 1990 - Springer Abstract. Morquio syndrome (mucopolysaccharidos- is IV) is a hereditary
lysosomal storage disease charac- terized by dwarfism, spondyloepiphyseal and
dental ab- normalities, corneal opacification, and normal intelli- gence. ... Cited by 8 - Related articles - All 2 versions
