[Three cases of mucolipidosis III with significant differences in clinical pictures--reevaluation of the classification of mucolipidosis II and III]. 1989

J Nishimoto, and H Tsukamoto, and K Inui, and S Okada, and H Yabuuchi, and H Tamai, and M Mino, and S Gasa, and M Tachi, and T Yamano

UI MeSH Term Description Entries
D008297 Male Males
D009081 Mucolipidoses A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) Cherry Red Spot Myoclonus Syndrome,Ganglioside Sialidase Deficiency Disease,I-Cell Disease,Lipomucopolysaccharidosis,Mucolipidosis,Myoclonus Cherry Red Spot Syndrome,Pseudo-Hurler Polydystrophy,Sialidosis,Cherry Red Spot-Myoclonus Syndrome,Deficiency Disease, Ganglioside Sialidase,Glycoprotein Neuraminidase Deficiency,Inclusion Cell Disease,Mucolipidosis I,Mucolipidosis II,Mucolipidosis III,Mucolipidosis III Alpha Beta,Mucolipidosis IIIa,Mucolipidosis IV,Mucolipidosis Type 1,Mucolipidosis Type I,Mucolipidosis Type II,Mucolipidosis Type III,Mucolipidosis Type IV,Myoclonus-Cherry Red Spot Syndrome,Psuedo-Hurler Disease,Sialolipidosis,Type I Mucolipidosis,Type II Mucolipidosis,Type III Mucolipidosis,Type IV Mucolipidosis,Deficiencies, Glycoprotein Neuraminidase,Deficiency, Glycoprotein Neuraminidase,Glycoprotein Neuraminidase Deficiencies,I Cell Disease,I-Cell Diseases,Inclusion Cell Diseases,Lipomucopolysaccharidoses,Mucolipidoses, Type I,Mucolipidoses, Type II,Mucolipidoses, Type III,Mucolipidoses, Type IV,Mucolipidosis, Type I,Mucolipidosis, Type II,Mucolipidosis, Type III,Mucolipidosis, Type IV,Polydystrophy, Pseudo-Hurler,Pseudo Hurler Polydystrophy,Psuedo Hurler Disease,Psuedo-Hurler Diseases,Sialidoses,Sialolipidoses,Type I Mucolipidoses,Type II Mucolipidoses,Type III Mucolipidoses,Type IV Mucolipidoses
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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