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mild Maroteau-Lamy syndrome相关文献:
Mild form of Maroteaux-Lamy syndrome: corneal histopathology and ultrastructure.
Laver NM, Friedlander MH, McLean IW.
Cornea. 1998 Nov;17(6):664-8. doi: 10.1097/00003226-199811000-00015.
PMID:9820948
Maroteaux-Lamy syndrome, mild form--MPS vi b.
Paterson DE, Harper G, Weston HJ, Mattingley J.
Br J Radiol. 1982 Nov;55(659):805-12. doi: 10.1259/0007-1285-55-659-805.
PMID:6814560
[Maroteaux-Lamy syndrome: a case report].
Mtar A, Charfeddine B, Braham I, Ben Abdallah J, Neffati S, Smach MA, Bourfifa Z, Ksouri M, Dridi H, Limem K.
Ann Biol Clin (Paris). 2011 Nov-Dec;69(6):693-7. doi: 10.1684/abc.2011.0627.
PMID:22123570
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S.
Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5.
PMID:20385007
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Nicolas-Jilwan M, AlSayed M.
Pediatr Radiol. 2018 Sep;48(10):1503-1520. doi: 10.1007/s00247-018-4139-3. Epub 2018 May 11.
PMID:29752520
Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype).
Quigley HA, Kenyon KR.
Am J Ophthalmol. 1974 Jun;77(6):809-18. doi: 10.1016/0002-9394(74)90383-3.
PMID:4365226
Deep anterior lamellar keratoplasty for Maroteaux-Lamy syndrome.
Rahmati-Kamel M, Javadi M, Shojaei A, Eslani M, Karimian F.
Cornea. 2010 Dec;29(12):1459-61. doi: 10.1097/ICO.0b013e3181d927d6.
PMID:20856106
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C.
J Biol Chem. 1994 Apr 1;269(13):9638-43.
PMID:8144552
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C.
Am J Hum Genet. 1994 Mar;54(3):454-63.
PMID:8116615
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C.
J Biol Chem. 1991 Nov 15;266(32):21386-91.
PMID:1718978
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