Lysosomal Disease Network

Previous Meetings:

ANNUAL SYMPOSIUM
(February 2008, Las Vegas, NV, USA)
Meeting Program Now Online!
And as a .pdf file

ANNUAL SYMPOSIUM 2006
Update: The Proceedings of the LDN WORLD Symposium 2006 are now published in the December 2007 issue of
Molecular Genetics and Metabolism
(Volume 92, Issue 4, Pages S1-S34, 287-378)

ANNUAL SYMPOSIUM 2005
Program and Abstracts (640kb .pdf file)

ANNUAL SYMPOSIUM 2004
Program

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The Lysosomal Diseases
with links to PubMed information

Aspartylglucosaminuria

GM1-Gangliosidosis types I/II/III

GM2-Gangliosidosis

alpha-Mannosidosis types I / II

beta-Mannosidosis

Metachromatic leukodystrophy

Sialidosis types I / II

Mucolipidosis type IV

Scheie syndrome

Hunter syndrome

Sanfilippo syndrome A

Sanfilippo syndrome B

Sanfilippo syndrome C

Sanfilippo syndrome D

Galactosialidosis types I / II

Krabbe disease

Sandhoff disease

Vogt-Spielmeyer disease

Hurler syndrome

Niemann-Pick disease

I-cell disease

pseudo-Hurler polydystrophy

Morquio syndrome

Maroteaux-Lamy syndrome

Sly syndrome

Mucopolysaccharidosis type IX

Multiple sulfatase deficiency

Batten disease, late infantile

Northern Epilepsy

Pycnodysostosis

Schindler disease

Sialuria, Salla disease

Disease Details
Disease	Clinical Phenotype	Enzyme/Protein Deficiency
Aspartylglucosaminuria		Aspartylglucosaminidase
Cholesterol ester storage disease	Wolman disease	Acid lipase
Cystinosis		Cystine transporter
Danon disease	Danon disease	Lamp-2
Fabry disease	Fabry disease	a-Galactosidase A
Farber Lipogranulomatosis	Farber disease	Acid ceramidase
Fucosidosis		a-L-Fucosidase
Galactosialidosis types I / II		Protective protein
Gaucher disease types I / II / III	Gaucher disease	Glucocerebrosidase (ß-glucosidase)
Globoid cell leukodystrophy	Krabbe disease	Galactocerebrosidase
Glycogen storage disease II	Pompe disease	a-Glucosidase
GM1-Gangliosidosis types I/II/III		ß-Galactosidase
GM2-Gangliosidosis type I	Tay Sachs disease	ß-Hexosaminidase A
GM2-Gangliosidosis type II	Sandhoff disease	ß-Hexosaminidase A & B
GM2-Gangliosidosis		GM2-activator deficiency
a-Mannosidosis types I / II		a-D-Mannosidase
ß-Mannosidosis		ß-D-Mannosidase
Metachromatic leukodystrophy		Arylsulfatase A
Metachromatic leukodystrophy		Saposin B
Mucolipidosis type I	Sialidosis types I / II	Neuraminidase
Mucolipidosis types II / III	I-cell disease;	Phosphotransferase
pseudo-Hurler polydystrophy
Mucolipidosis type IIIC	pseudo-Hurler polydystrophy	Phosphotransferase g-subunit
Mucolipidosis type IV		Unknown
Mucopolysaccharidosis type I	Hurler syndrome	a-L-Iduronidase
	Scheie syndrome
Mucopolysaccharidosis type II	Hunter syndrome	Iduronate-2-sulfatase
Mucopolysaccharidosis type IIIA	Sanfilippo syndrome	Heparan-N-sulfatase
Mucopolysaccharidosis type IIIB	Sanfilippo syndrome	a-N-Acetylglucosaminidase
Mucopolysaccharidosis type IIIC	Sanfilippo syndrome	AcetylCoA:N-acetyltransferase
Mucopolysaccharidosis type IIID	Sanfilippo syndrome	N-Acetylglucosamine 6-sulfatase
Mucopolysaccharidosis type IVA	Morquio syndrome	Galactose 6-sulfatase
Mucopolysaccharidosis type IVB	Morquio syndrome	ß-Galactosidase
Mucopolysaccharidosis type VI	Maroteaux-Lamy syndrome	N-Acetylgalactosamine 4-sulfatase
Mucopolysaccharidosis type VII	Sly syndrome	ß-Glucuronidase
Mucopolysaccharidosis type IX		hyaluronoglucosaminidase-1
Multiple sulfatase deficiency		Multiple sulfatases
Neuronal Ceroid Lipofuscinosis, CLN1	Batten disease	Palmitoyl protein thioesterase
Neuronal Ceroid Lipofuscinosis, CLN2	Batten disease	Tripeptidyl pepetidase 1
Neuronal Ceroid Lipofuscinosis, CLN3	Vogt-Spielmeyer disease	Protein function not known
Neuronal Ceroid Lipofuscinosis, CLN5	Batten disease	Protein function not known
Neuronal Ceroid Lipofuscinosis, CLN6	Batten disease, late infantile	Protein function not known
Neuronal Ceroid Lipofuscinosis, CLN8	Northern Epilepsy	Protein function not known
Niemann-Pick disease types A / B	Niemann-Pick disease	Acid sphingomyelinase
Niemann-Pick disease type C1	Niemann-Pick disease	Choleserol trafficking
Niemann-Pick disease type C2	Niemann-Pick disease	Cholesterol trafficking
Pycnodysostosis		Cathepsin K
Schindler disease types I / II	Schindler disease	a-Gactosidase B
Sialic acid storage disease	Sialuria, Salla disease	Sialic acid transporter