| Self-mutilation in a patient with mucolipidosis III. | |
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MedLine Citation:
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PMID: 7986298 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An 8-year-old girl with mucolipidosis III had self-mutilation of the distal phalanges of the second and third digits of her hands. She had neurophysiologic evidence of carpal tunnel syndrome, and consequent insensitivity to pain, which could explain the self-mutilation. Self-mutilation has not been previously described in lysosomal diseases in which carpal tunnel syndrome is frequently observed. |
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Authors:
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E Zammarchi; A Savelli; M A Donati; E Pasquini |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 11 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1995-01-12 Completed Date: 1995-01-12 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 68-70 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, University of Florence, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Carpal Tunnel Syndrome
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diagnosis,
enzymology,
genetics* Cerebroside-Sulfatase / blood Child Female Fibroblasts / enzymology Finger Injuries / etiology Glucuronidase / blood Humans Leukocytes / enzymology Mannosidases / blood Mucolipidoses / diagnosis, enzymology, genetics* Self Mutilation / diagnosis, enzymology, genetics* alpha-L-Fucosidase / blood alpha-Mannosidase beta-Galactosidase / blood beta-N-Acetylhexosaminidases / blood |
| Chemical | |
Reg. No./Substance:
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EC 3.1.6.8/Cerebroside-Sulfatase; EC 3.2.1.-/Mannosidases; EC 3.2.1.23/beta-Galactosidase; EC 3.2.1.24/alpha-Mannosidase; EC 3.2.1.31/Glucuronidase; EC 3.2.1.51/alpha-L-Fucosidase; EC 3.2.1.52/beta-N-Acetylhexosaminidases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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