[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].
Schulz R1, Vogt J, Voss W, Hanefeld F.
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.Monatsschr Kinderheilkd.1987 Oct;135(10):708-11.
Mucolipidosis II (I-cell disease), an autosomal recessive inborn error of mucolipid metabolism with defective transport of lysosomal enzymes is described in a young infant. Besides the typical findings as a result of the "lysosomopathy", this case presented an unusual and distinct cardiac involvemen
I-cell disease and its rehabilitation: case study.
Rizk TE, Christopher RP, Feldman J, Ha SB, Park SJ.
Archives of physical medicine and rehabilitation.Arch Phys Med Rehabil.1982 Mar;63(3):138-40.
I-cell disease is a rare inborn error of mucolipid metabolism that is characterized by generalized hypotonia, thick and tight skin, restriction of joint motion, coarse facial features, bony deformities, and an inability to stand or walk. A case was treated with gentle stretching, neurodevelopmental
Storage of polyvinylpyrrolidone mimicking a congenital mucolipid storage disease in a patient with Munchausen's syndrome.
Bubis JJ, Cohen S, Dinbar J, Hirschhorn B, Szeinberg A, Wolman M.
Israel journal of medical sciences.Isr J Med Sci.1975 Oct;11(10):999-1004.
A 24-year-old woman from the Sinai peninsula had, since the age of 15 years, repeatedly undergone surgery because of gastrointestinal bleeding. The bleeding was found to have been caused by self-inflicted injuries. Histiocytes in the patient's liver and lymph nodes (the spleen had been removed nine
ScienceDirect features may not work properly in your current browser version. For the best product experience, we recommend you upgrade to a newer version of IE or use a different browser: Firefox or Chrome. Close Journals