I-cell disease

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Related to mucolipidosis: mucolipidosis II, mucolipidosis III, mucolipidosis IV, Mucolipidosis type IV

I-cell disease

[′ī‚sel diz‚ēz]
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Mucolipidosis type III [alpha]/[beta] is a rare autosomal recessive lysosomal storage disease with prominent skeletal involvement.
Fanconi anemia, Niemann-Pick disease, Bloom syndrome, and mucolipidosis type IV) in the Ashkenazi Jewish population, for which carrier testing is recommended (40).
net/moe bius 1,2,3,6,8,9 MONOSOMY X See: Turner Syndrome MORQUIO SYNDROME See: Mucopolysaccharidosis; Tay-Sachs Disease MORVAN DISEASE See: Syringomyelia MOTOR-SENSORY NEUROPATHY, HEREDITARY See: Charcot-Marie-Tooth Disease MOYAMOYA DISEASE See: Stroke; Vascular Malformations MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV; Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See also: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 East 17th St.
Ashkenazi Jewish descendents are 50 to 60 times more likely to inherit mutations causing Gaucher, Tay-Sachs, Niemann-Pick type A, and mucolipidosis IV (23, 27, 28).
Their son Scott, now 13, has a metabolic disorder called Mucolipidosis IV, or ML4 for short.
is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.
AJGS was founded by Atlanta couple Caroline and Randy Gold, whose daughter Eden was born in 2008 with Mucolipidosis Type 4 (ML4), a progressive and debilitating neurological disorder beginning in infancy.
Sialidosis, or mucolipidosis I, is caused by a deficiency of the lysosomal enzyme neuraminidase.