Literature DB >> 4255137

Mucolipidosis II (I-cell disease): ultrastructural observations of conjunctiva and skin.

K R Kenyon, J A Sensenbrenner.   

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Year:  1971        PMID： 4255137

Source DB:  PubMed          Journal:  Invest Ophthalmol        ISSN： 0020-9988


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  6 in total

1.  I-cell disease (mucolipidosis II):a report on its pathology.

Authors:  J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

Review 2.  The efficacy of conjunctival biopsy as a screening technique in lysosomal storage disorders.

Authors:  M L Mazow
Journal:  Trans Am Ophthalmol Soc       Date:  1987

3.  Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings.

Authors:  A Borit; G I Sugarman; W H Spencer
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1976-01-16

4.  Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.

Authors:  Marielle Boonen; Eline van Meel; Viola Oorschot; Judith Klumperman; Stuart Kornfeld
Journal:  Mol Biol Cell       Date:  2011-02-16       Impact factor: 4.138

5.  Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

Authors:  A Federico; G Capece; A Cecio; N D'Auria; G Di Iorio; L Ronsisvalle; P Di Natale
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

6.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154
  6 in total

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