Biomaterial Database

Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. 1981

A Federico, and J Robert, and J P Zanetta, and G C Guazzi

UI	MeSH Term	Description	Entries
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D008970	Molecular Weight	The sum of the weight of all the atoms in a molecule.	Molecular Weights,Weight, Molecular,Weights, Molecular
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
D009084	Mucopolysaccharidosis III	Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.	Polydystrophic Oligophrenia,Sanfilippo's Syndrome,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency,Heparan Sulfate Sulfatase Deficiency,MPS 3 A,MPS 3 B,MPS 3 C,MPS 3 D,MPS III A,MPS III B,MPS III C,MPS III D,MPS IIIA,MPS IIIB,MPS IIIC,MPS IIID,MPS3A,MPS3B,MPS3C,Mucopolysaccharidosis 3,Mucopolysaccharidosis Type 3 A,Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome,Mucopolysaccharidosis Type 3 B,Mucopolysaccharidosis Type 3 C,Mucopolysaccharidosis Type 3 D,Mucopolysaccharidosis Type IIIA,Mucopolysaccharidosis Type IIIB,Mucopolysaccharidosis Type IIIC,Mucopolysaccharidosis Type IIID,N-Acetyl-alpha-D-Glucosaminidase Deficiency,N-Acetylglucosamine-6-Sulfatase Deficiency,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency,NAGLU Deficiency,San Filippo's Syndrome,Sanfilippo Syndrome,Sanfilippo Syndrome A,Sanfilippo Syndrome B,Sanfilippo Syndrome C,Sanfilippo Syndrome D,Sulfamidase Deficiency,Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies,Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiencies, N-Acetyl-alpha-D-Glucosaminidase,Deficiencies, N-Acetylglucosamine-6-Sulfatase,Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiencies, NAGLU,Deficiencies, Sulfamidase,Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiency, N-Acetyl-alpha-D-Glucosaminidase,Deficiency, N-Acetylglucosamine-6-Sulfatase,Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiency, NAGLU,Deficiency, Sulfamidase,MPS IIIDs,Mucopolysaccharidosis IIIs,Mucopolysaccharidosis Type IIIAs,Mucopolysaccharidosis Type IIIBs,Mucopolysaccharidosis Type IIICs,Mucopolysaccharidosis Type IIIDs,N Acetyl alpha D Glucosaminidase Deficiency,N Acetylglucosamine 6 Sulfatase Deficiency,N Acetylglucosamine 6 Sulfate Sulfatase Deficiency,N-Acetyl-alpha-D-Glucosaminidase Deficiencies,N-Acetylglucosamine-6-Sulfatase Deficiencies,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies,N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide,N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide,NAGLU Deficiencies,Oligophrenia, Polydystrophic,Oligophrenias, Polydystrophic,Polydystrophic Oligophrenias,San Filippo Syndrome,San Filippos Syndrome,Sanfilippo Syndromes,Sanfilippos Syndrome,Sulfamidase Deficiencies,Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate,Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate,Syndrome, San Filippo's,Syndrome, Sanfilippo,Syndrome, Sanfilippo's,Syndromes, Sanfilippo
D009419	Nerve Tissue Proteins		Proteins, Nerve Tissue,Tissue Proteins, Nerve
D001834	Body Water	Fluids composed mainly of water found within the body.	Water, Body
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004591	Electrophoresis, Polyacrylamide Gel	Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.	Polyacrylamide Gel Electrophoresis,SDS-PAGE,Sodium Dodecyl Sulfate-PAGE,Gel Electrophoresis, Polyacrylamide,SDS PAGE,Sodium Dodecyl Sulfate PAGE,Sodium Dodecyl Sulfate-PAGEs
D005260	Female		Females