Search on: MUCOLIPIDOSES 
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Descriptor English:   Mucolipidoses 
Descriptor Spanish:   Mucolipidosis 
Descriptor Portuguese:   Mucolipidoses 
Synonyms English:   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
I-Cell Disease
Lipomucopolysaccharidosis
Pseudo-Hurler Polydystrophy
Cherry Red Spot Myoclonus Syndrome
Ganglioside Sialidase Deficiency Disease
Mucolipidosis
Myoclonus Cherry Red Spot Syndrome
Sialidosis  
Tree Number:   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
Definition English:   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) 
See Related English:   Gangliosidoses
 
History Note English:   2000(1977) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   9273 
Unique Identifier:   D009081 

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