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Sphingolipidosis

Disease SpherocytosisSpider angioma

Sphingolipidosis 1
Sphingolipidosis, Krabbe's Type
Sphingolipidosis, Tay-Sachs
Spica cast, Caring for your child in a
Spider Bite, Black Widow
Spider Bite, Brown Recluse
Spider Bites
Spider Veins
Spielmeyer-Sjogren Disease
Spina Bifida ...

 


Sphingolipidosis 1
Sphingolipidosis, Krabbe's Type
Sphingolipidosis, Tay-Sachs
sphingomyelinase deficiency
Spica cast, Caring for your child in a
Spider Bite, Black Widow
Spider Bite, Brown Recluse
Spider Bites
Spider Veins ...

spherophakia-brachymorphia syndrome
Sphingolipidosis 1
Sphingolipidosis, Krabbe's Type
Sphingolipidosis, Tay-Sachs
sphingomyelinase deficiency
Spica cast, Caring for your child in a
Spider Bite, Black Widow ...

An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES.

Other names for Tay-Sachs disease include Tay-Sachs sphingolipidosis, infantile ganglioside lipidosis, cerebromacular degeneration, GM2 gangliosidosis Type 1, and amaurotic familial infantile idiocy.
Symptoms ...

Farber's Lipogranulomatosis
Autosomal recessive sphingolipidosis. Present in early childhood. There may be painful swellings affecting tendons and joints.
Fascia
Tough membrane that encloses muscles and other organs.

B variant GM2 gangliosidosis
GM2 gangliosidosis, type 1
HexA deficiency
Hexosaminidase A deficiency
Hexosaminidase alpha-subunit deficiency (variant B)
Sphingolipidosis, Tay-Sachs
TSD ...

hexosaminidase alpha-subunit deficiency (variant B), infantile TSD, juvenile TSD, late onset TSD, LOTS, lysosomal storage disorder, lysosome, mental illness, mutation, nerve cell, nervous system, recessive, screening, seizure, sphingolipidosis, TSD.

See also: Paralysis, Deficiency, Tay-sachs, Symptom, Seizures

Disease SpherocytosisSpider angioma

 
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