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)
推出的年份: 2000(1977)
树号: C05.116.198.371, C10.228.140.163.100.435.590, C16.320.565.189.435.590, C16.320.565.202.670, C16.320.565.595.554.590, C18.452.132.100.435.590, C18.452.648.189.435.590, C18.452.648.202.670, C18.452.648.595.554.590
MeSH 单一 ID: D009081
进入的组:
Sialidosis
Sialidoses
Mucolipidosis
Type I Mucolipidosis
Mucolipidoses, Type I
Mucolipidosis, Type I
Type I Mucolipidoses
Glycoprotein Neuraminidase Deficiency
Deficiencies, Glycoprotein Neuraminidase
Deficiency, Glycoprotein Neuraminidase
Glycoprotein Neuraminidase Deficiencies
Cherry Red Spot-Myoclonus Syndrome
Myoclonus-Cherry Red Spot Syndrome
Mucolipidosis Type I
Mucolipidosis I
Cherry Red Spot Myoclonus Syndrome
Myoclonus Cherry Red Spot Syndrome
Mucolipidosis Type 1
Type III Mucolipidosis
Mucolipidoses, Type III
Mucolipidosis, Type III
Type III Mucolipidoses
Mucolipidosis III
Pseudo-Hurler Polydystrophy
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Mucolipidosis IIIa
Mucolipidosis III Alpha Beta
Mucolipidosis Type III
Psuedo-Hurler Disease
Psuedo Hurler Disease
Psuedo-Hurler Diseases
Type IV Mucolipidosis
Mucolipidoses, Type IV
Mucolipidosis, Type IV
Type IV Mucolipidoses
Deficiency Disease, Ganglioside Sialidase
Ganglioside Sialidase Deficiency Disease
Sialolipidosis
Sialolipidoses
Mucolipidosis Type IV
Mucolipidosis IV
Lipomucopolysaccharidosis
Lipomucopolysaccharidoses
Type II Mucolipidosis
Mucolipidoses, Type II
Mucolipidosis, Type II
Type II Mucolipidoses
I-Cell Disease
I Cell Disease
I-Cell Diseases
Mucolipidosis Type II
Inclusion Cell Disease
Inclusion Cell Diseases
Mucolipidosis II
早前的内容:
Lipid Metabolism, Inborn Errors (1966-1976)
Lipochondrodystrophy (1966-1976)
Lipoidosis (1966-1976)
Mucopolysaccharidosis (1974-1976)
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