The detail information of Gangliosidosis
Basic Information

Another Name: ganglioside storage disease

Disease Description: Gangliosidosis, also called ganglioside storage disease, is an inherited autosomal recessive defects of lysosomal hydrolase enzyme.

Inherit Mode: -

Disease Symptom: Clinical signs of GM1 gangliosidosis are first noted in dogs around 4 to 5 months of age and in cats from 2 to 5 months of age.Initial signs include weight loss, moderate wide-based gait, and a fine tremor of the head. At 7 months of age, diseased animals display dwarfism and show clinical neurological signs including poor movement coordination (ataxia). Frequent falling and swaying is noticed, and the head tremor becomes more obvious. Affected dogs continue to eat and drink, although at a decreased level. Some cats with GM1 gangliosidosis manifest enlarged liver (hepatomegaly) which may appear swollen. GM1 gangliosidosis has been reported in cats (Siamese, Korat, and Domestic Shorthair), and dogs (English Springer Spaniel, Portuguese Water dog, mixed-breed Beagle, huskies, Shiba Inu, and cross-breed dogs).

Disease Cause: -

Disease Diagnose: -

Treat Method: The three approaches to providing normal enzyme to a patient's cells are enzyme replacement therapy (ERT), bone marrow transplantation (BMT) and gene therapy. In general, the most difficult target tissue in the LSDs is the central nervous system. Bone marrow transplantation early in life has been found to be ineffective in canine GM1 gangliosidosis.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Gangliosidosis - - - -
Gangliosidosis, GM1 - Autosomal Recessive GLB1
Gangliosidosis, GM2, generic - Autosomal Recessive - -
Gangliosidosis, GM2, GM2A deficiency - Autosomal Recessive -
Gangliosidosis, GM2, type I (B variant) Gangliosidosis, GM2, type I Autosomal Recessive HEXA
Gangliosidosis, GM2, type II (Sandhoff or variant 0) - Autosomal Recessive HEXB
Associated Breeds
There are associated breeds.
References
2018 Wang,P.,Henthorn,P.S.,Galban,E.,Lin,G.,Takedai,T.,Casal,M.: :
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. J Vet Intern Med 32:340-347, 2018.
Pubmed reference: 29106755 . DOI: 10.1111/jvim.14862 .
2017 Kolicheski,A.,Johnson,G.S.,Villani,N.A.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Wenger,D.A.,Mikoloski,K.,Eagleson,J.S.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.,Kolicheski,A.,Johnson,G.S.,Villani,N.A.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Wenger,D.A.,Mikoloski,K.,Eagleson,J.S.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.: :
GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. J Vet Intern Med 31:1520-1526, 2017.
Pubmed reference: 28833537 . DOI: 10.1111/jvim.14794 .
2016 Kohyama,M.,Yabuki,A.,Ochiai,K.,Nakamoto,Y.,Uchida,K.,Hasegawa,D.,Takahashi,K.,Kawaguchi,H.,Tsuboi,M.,Yamato,O.: :
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016.
Pubmed reference: 27036194 . DOI: 10.1186/s12917-016-0691-y .
2016 Kohyama,M.,Yabuki,A.,Ochiai,K.,Nakamoto,Y.,Uchida,K.,Hasegawa,D.,Takahashi,K.,Kawaguchi,H.,Tsuboi,M.,Yamato,O.: :
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016.
Pubmed reference: 27036194 . DOI: 10.1186/s12917-016-0691-y .
2016 Lawson,C.A.,Martin,D.R.: :
Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016.
Pubmed reference: 27499644 . DOI: 10.2147/TACG.S85354 .
2016 Lawson,C.A.,Martin,D.R.: :
Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016.
Pubmed reference: 27499644 . DOI: 10.2147/TACG.S85354 .
2015 Kohyama,M.,Yabuki,A.,Kawasaki,Y.,Kawaguchi,H.,Miura,N.,Kitano,Y.,Onitsuka,T.,Rahman,M.M.,Miyoshi,N.,Yamato,O.: :
GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog. J Am Anim Hosp Assoc 51:396-400, 2015.
Pubmed reference: 26535459 . DOI: 10.5326/JAAHA-MS-6258 .
2013 Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013.
Pubmed reference: 24069350 . DOI: 10.1371/journal.pone.0074811 .
2013 Hasegawa,D.,Tamura,S.,Nakamoto,Y.,Matsuki,N.,Takahashi,K.,Fujita,M.,Uchida,K.,Yamato,O.: :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013.
Pubmed reference: 24386203 . DOI: 10.1371/journal.pone.0083455 .
2013 Uddin,M.M.,Arata,S.,Takeuchi,Y.,Chang,H.S.,Mizukami,K.,Yabuki,A.,Rahman,M.M.,Kohyama,M.,Hossain,M.A.,Takayama,K.,Yamato,O.: :
Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency. BMC Vet Res 9:132, 2013.
Pubmed reference: 23819787 . DOI: 10.1186/1746-6148-9-132 .
2013 Hasegawa,D.,Tamura,S.,Nakamoto,Y.,Matsuki,N.,Takahashi,K.,Fujita,M.,Uchida,K.,Yamato,O.: :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013.
Pubmed reference: 24386203 . DOI: 10.1371/journal.pone.0083455 .
2013 Freeman,A.C.,Platt,S.R.,Vandenberg,M.,Holmes,S.,Kent,M.,Rech,R.,Howerth,E.,Mishra,S.,O'Brien,D.P.,Wenger,D.: :
GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med 27:771-6, 2013.
Pubmed reference: 23731274 . DOI: 10.1111/jvim.12118 .
2013 Sanders,D.N.,Zeng,R.,Wenger,D.A.,Johnson,G.S.,Johnson,G.C.,Decker,J.E.,Katz,M.L.,Platt,S.R.,O'Brien,D.P.: :
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab 108:70-5, 2013.
Pubmed reference: 23266199 . DOI: 10.1016/j.ymgme.2012.11.008 .
2013 Rahman,M.M.,Yabuki,A.,Kohyama,M.,Mitani,S.,Mizukami,K.,Uddin,M.M.,Chang,H.S.,Kushida,K.,Kishimoto,M.,Yamabe,R.,Yamato,O.: :
Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan. J Vet Med Sci :, 2013.
Pubmed reference: 24161966 .
2012 Hasegawa,D.,Yamato,O.,Nakamoto,Y.,Ozawa,T.,Yabuki,A.,Itamoto,K.,Kuwabara,T.,Fujita,M.,Takahashi,K.,Mizoguchi,S.,Orima,H.: :
Serial MRI features of canine GM1 gangliosidosis: a possible imaging biomarker for diagnosis and progression of the disease. ScientificWorldJournal 2012:250197, 2012.
Pubmed reference: 22536126 . DOI: 10.1100/2012/250197 .
2012 Rahman,M.M.,Kawaguchi,H.,Miyoshi,N.,Yabuki,A.,Nakamoto,Y.,Ozawa,T.,Yamato,O.: :
Pathological features of salivary gland cysts in a Shiba dog with GM1 gangliosidosis: a possible misdiagnosis as malignancy. J Vet Med Sci 74:485-9, 2012.
Pubmed reference: 22083095 .
2012 Sewell,A.C.,Haskins,M.E.,Giger,U.: :
Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol 41:548-57, 2012.
Pubmed reference: 23121383 . DOI: 10.1111/j.1939-165x.2012.00485.x .
2012 Rahman,M.M.,Chang,H.S.,Mizukami,K.,Hossain,M.A.,Yabuki,A.,Tamura,S.,Kitagawa,M.,Mitani,S.,Higo,T.,Uddin,M.M.,Uchida,K.,Yamato,O.: :
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J :, 2012.
Pubmed reference: 22766310 . DOI: 10.1016/j.tvjl.2012.05.021 .
2011 Satoh,H.,Yamauchi,T.,Yamasaki,M.,Maede,Y.,Yabuki,A.,Chang,H.S.,Asanuma,T.,Yamato,O.: :
Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. J Vet Diagn Invest 23:1202-7, 2011.
Pubmed reference: 22362802 . DOI: 10.1177/1040638711425592 .
2010 Chang,HS.,Arai,T.,Yabuki,A.,Hossain,MA.,Rahman,MM.,Mizukami,K.,Yamato,O.: :
Rapid and reliable genotyping technique for GM1 gangliosidosis in Shiba dogs by real-time polymerase chain reaction with TaqMan minor groove binder probes. J Vet Diagn Invest 22:234-7, 2010.
Pubmed reference: 20224082 .
2010 Tamura,S.,Tamura,Y.,Uchida,K.,Nibe,K.,Nakaichi,M.,Hossain,MA.,Chang,HS.,Rahman,MM.,Yabuki,A.,Yamato,O.: :
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. J Vet Intern Med 24:1013-9, 2010.
Pubmed reference: 20695991 . DOI: 10.1111/j.1939-1676.2010.0564.x .
2009 Kreutzer,R.,Kreutzer,M.,Sewell,AC.,Techangamsuwan,S.,Leeb,T.,Baumgartner,W.: :
Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochim Biophys Acta 1792:982-7, 2009.
Pubmed reference: 19607915 . DOI: 10.1016/j.bbadis.2009.07.004 .
2008 Kreutzer,R.,Kreutzer,M.,Leeb,T.,Baumgartner,W.: :
Rapid and accurate G M1-gangliosidosis diagnosis using a parentage testing microsatellite. Mol Cell Probes 22:252-4, 2008.
Pubmed reference: 18562164 . DOI: 10.1016/j.mcp.2008.05.001 .
2008 Nagayasu,A.,Nakamura,T.,Yamato,O.,Tsuzuki,K.,Hosaka,Y.,Ueda,H.,Tangkawattana,P.,Takehana,K.: :
Morphological analysis of corneal opacity in Shiba dog with GM1 gangliosidosis. J Vet Med Sci 70:881-6, 2008.
Pubmed reference: 18840960 .
2008 Yamato,O.,Jo,EO.,Chang,HS.,Satoh,H.,Shoda,T.,Sato,R.,Uechi,M.,Kawasaki,N.,Naito,Y.,Yamasaki,M.,Maede,Y.,Arai,T.: :
Molecular screening of canine GM1 gangliosidosis using blood smear specimens after prolonged storage: detection of carriers among shiba dogs in northern Japan. J Vet Diagn Invest 20:68-71, 2008.
Pubmed reference: 18182512 .
2007 Kreutzer,R.,Kreutzer,M.,Propsting,MJ.,Sewell,AC.,Leeb,T.,Naim,HY.,Baumgartner,W.: :
Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis. J Cell Mol Med 12:1661-71, 2007.
Pubmed reference: 18088383 . DOI: 10.1111/j.1582-4934.2007.00204.x .
2007 Satoh,H.,Yamato,O.,Asano,T.,Yonemura,M.,Yamauchi,T.,Hasegawa,D.,Orima,H.,Arai,T.,Yamasaki,M.,Maede,Y.: :
Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: possible use for assessment of a therapeutic regimen. Brain Res 1133:200-8, 2007.
Pubmed reference: 17196562 . DOI: 10.1016/j.brainres.2006.11.039 .
2006 Yamato,O.,Jo,EO.,Satoh,H.,Yamauchi,T.,Kobayashi,A.,Yamasaki,M.,Maede,Y.: :
Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications. Vet Clin Pathol 35:91-4, 2006.
Pubmed reference: 16511797 .
2005 Kreutzer,R.,Leeb,T.,Muller,G.,Moritz,A.,Baumgartner,W.: :
A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005.
Pubmed reference: 15944348 . DOI: 10.1534/genetics.105.042580 .
2005 Matsuki,N.,Yamato,O.,Kusuda,M.,Maede,Y.,Tsujimoto,H.,Ono,K.: :
Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J 46:275-8, 2005.
Pubmed reference: 15884653 .
2004 Satoh,H.,Yamato,O.,Asano,T.,Yamasaki,M.,Maede,Y.: :
Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis. J Vet Diagn Invest 16:223-6, 2004.
Pubmed reference: 15152837 .
2004 Yamato,O.,Jo,EO.,Shoda,T.,Yamasaki,M.,Maede,Y.: :
Rapid and simple mutation screening of G(M1) gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens. J Vet Diagn Invest 16:469-72, 2004.
Pubmed reference: 15460336 .
2004 Yamato,O.,Kobayashi,A.,Satoh,H.,Endoh,D.,Shoda,T.,Masuoka,Y.,Hatakeyama,A.,Jo,EO.,Asano,T.,Yonemura,M.,Yamasaki,M.,Maede,Y.: :
Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of G(M1)-gangliosidosis in Shiba dogs. J Vet Diagn Invest 16:299-304, 2004.
Pubmed reference: 15305740 .
2004 Satoh,H.,Yamato,O.,Asano,T.,Yamasaki,M.,Maede,Y.: :
Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis. J Vet Diagn Invest 16:223-6, 2004.
Pubmed reference: 15152837 .
2004 Yamato,O.,Satoh,H.,Matsuki,N.,Ono,K.,Yamasaki,M.,Maede,Y.: :
Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid. J Vet Diagn Invest 16:39-44, 2004.
Pubmed reference: 14974845 .
2003 Yamato,O.,Masuoka,Y.,Yonemura,M.,Hatakeyama,A.,Satoh,H.,Kobayashi,A.,Nakayama,M.,Asano,T.,Shoda,T.,Yamasaki,M.,Ochiai,K.,Umemura,T.,Maede,Y.: :
Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis Journal of Veterinary Medical Science 65:213-7, 2003.
Pubmed reference: 12655116 .
2002 Yamato,O.,Endoh,D.,Kobayashi,A.,Masuoka,Y.,Yonemura,M.,Hatakeyama,A.,Satoh,H.,Tajima,M.,Yamasaki,M.,Maede,Y.: :
A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs Journal of Inherited Metabolic Disease 25:525-526, 2002.
Pubmed reference: 12555949 .
2002 Yamato,O.,Matsuki,N.,Satoh,H.,Inaba,M.,Ono,K.,Yamasaki,M.,Maede,Y.: :
Sandhoff disease in a golden retriever dog Journal of Inherited Metabolic Disease 25:319-320, 2002.
Pubmed reference: 12227463 .
2001 Müller,G.,Alldinger,S.,Moritz,A.,Zurbriggen,A.,Kirchhof,N.,Sewell,A.,Baumgärtner,W.: :
GM1-gangliosidosis in Alaskan huskies: clinical and pathologic findings. Vet Pathol 38:281-90, 2001.
Pubmed reference: 11355658 .
2000 Wang,Z.H.,Zeng,B.,Shibuya,H.,Johnson,G.S.,Alroy,J.,Pastores,G.M.,Raghavan,S.,Kolodny,E.H.: :
Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000.
Pubmed reference: 11032334 .
2000 Whitfield,P.,Johnson,A.W.,Dunn,K.A.,Delauche,A.J.N.,Winchester,B.G.,Franklin,R.J.M.: :
G(M1)-gangliosidosis in a cross-bred dog confirmed by detection of G(M1)-ganglioside using electrospray ionisation-tandem mass spectrometry Acta Neuropathologica 100:409-414, 2000.
Pubmed reference: 10985700 .
2000 Yamato,O.,Ochiai,K.,Masuoka,Y.,Hayashida,E.,Tajima,M.,Omae,S.,Iijima,M.,Umemura,T.,Maede,Y.: :
GM1 gangliosidosis in shiba dogs Veterinary Record 146:493-496, 2000.
Pubmed reference: 10887996 .
1998 Muller,G.,Baumgartner,W.,Moritz,A.,Sewell,A.,Kustermannkuhn,B.: :
Biochemical findings in a breeding colony of Alaskan huskies suffering from GM(1)-gangliosidosis Journal of Inherited Metabolic Disease 21:430-431, 1998.
Pubmed reference: 9700604 .
1995 Alroy,J.,Knowles,K.,Schelling,S.H.,Kaye,E.M.,Rosenberg,A.E.: :
Retarded bone formation in G(M1)-gangliosidosis: A study of the infantile form and comparison with two canine models Virchows Archiv - an International Journal of Pathology 426:141-148, 1995.
Pubmed reference: 7757284 .
1992 Alroy,J.,Orgad,U.,Degasperi,R.,Richard,R.,Warren,C.D.,Knowles,K.,Thalhammer,J.G.,Raghavan,S.S.: :
Canine GM1-Gangliosidosis - A Clinical, Morphologic, Histochemical, and Biochemical Comparison of Two Different Models American Journal of Pathology 140:675-689, 1992.
Pubmed reference: 1546746 .
1992 Fischer,I.,Alroy,J.: :
Reduced Levels of Neuronal-Specific Microtubule-Associated Protein (MAP2) in Canine G(M1)-Gangliosidosis Neuroscience Research Communications 10:155-161, 1992.
1992 Kaye,E.M.,Alroy,J.,Raghavan,S.S.,Schwarting,G.A.,Adelman,L.S.,Runge,V.,Gelblum,D.,Thalhammer,J.G.,Zuniga,G.: :
Dysmyelinogenesis in Animal Model of GM1 Gangliosidosis Pediatric Neurology 8:255-261, 1992.
Pubmed reference: 1388413 .
1991 Rotmistrovsky,R.A.,Alcaraz,A.,Cummings,J.C.,deLahunta,A.,Farmer,S.F.: :
GM2 gangliosidosis in a mixed-breed dog Progress in Veterinary Neurology 2:203–208 , 1991.
1990 Obrien,J.S.,Storb,R.,Raff,R.F.,Harding,J.,Appelbaum,F.,Morimoto,S.,Kishimoto,Y.,Graham,T.,Ahernrindell,A.,Obrien,S.L.: :
Bone Marrow Transplantation in Canine GM1 Gangliosidosis Clinical Genetics 38:274-280, 1990.
Pubmed reference: 2125250 .
1989 Shell,LG.,Potthoff,AI.,Carithers,R.,Katherman,A.,Saunders,GK.,Wood,PA.,Giger,U.: :
Neuronal-visceral GM1 gangliosidosis in Portuguese water dogs. J Vet Intern Med 3:1-7, 1989.
Pubmed reference: 2494322 .
1988 Saunders,GK.,Wood,PA.,Myers,RK.,Shell,LG.,Carithers,R.: :
GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings. Vet Pathol 25:265-9, 1988.
Pubmed reference: 3136586 .
1987 Ishikawa,Y.,Li,SC.,Wood,PA.,Li,YT.: :
Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. J Neurochem 48:860-4, 1987.
Pubmed reference: 2949061 .
1987 Eto,Y.,Ida,H.,Umezawa,F.,Ohashi,T.,Gomibuchi,I.,Maekawa,K.: :
Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis. Tohoku J Exp Med 152:333-8, 1987.
Pubmed reference: 2958961 .
1985 Alroy,J.,Orgad,U.,Ucci,AA.,Schelling,SH.,Schunk,KL.,Warren,CD.,Raghavan,SS.,Kolodny,EH.: :
Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency. Science 229:470-2, 1985.
Pubmed reference: 3925555 .
1985 Cummings,JF.,Wood,PA.,Walkley,SU.,deLahunta,A.,DeForest,ME.: :
GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol (Berl) 67:247-53, 1985.
Pubmed reference: 2931941 .
1985 Cummings,JF.,Wood,PA.,Walkley,SU.,deLahunta,A.,DeForest,ME.: :
GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol (Berl) 67:247-53, 1985.
Pubmed reference: 2931941 .
1984 Eto,Y.,Autilio-Gambetti,L.,McGrath,JT.: :
Canine GM2-gangliosidosis: chemical and enzymatic features. Adv Exp Med Biol 174:431-40, 1984.
Pubmed reference: 6234761 .
1982 Rodriguez,M.,O'Brien,JS.,Garrett,RS.,Powell,HC.: :
Canine GM1 gangliosidosis. An ultrastructural and biochemical study. J Neuropathol Exp Neurol 41:618-29, 1982.
Pubmed reference: 6813429 .
1982 Warner,TG.,O'Brien,JS.: :
Structure analysis of the major oligosaccharides accumulating in canine GM1 gangliosidosis liver. J Biol Chem 257:224-32, 1982.
Pubmed reference: 6796586 .
1980 Rittmann,LS.,Tennant,LL.,O'Brien,JS.: :
Dog GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase. Am J Hum Genet 32:880-9, 1980.
Pubmed reference: 6778205 .
1976 Baker,H.J.,Mole,J.A.,Lindsey,J.R.,Creel,R.M.: :
Animal models of human ganglioside storage diseases Federation Proceedings 35:1193-1201, 1976.
Pubmed reference: 816677 .
1976 Read,DH.,Harrington,DD.,Keenana,TW.,Hinsman,EJ.: :
Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency. Science 194:442-5, 1976.
Pubmed reference: 824730 .
1973 Karbe,E.: :
Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and 3. Am J Pathol 71:151-4, 1973.
Pubmed reference: 4121750 .
1970 Gambetti,L.A.,Kelly,A.M.,Steinberg,S.A.: :
Biochemical studies in a canine gangliosidosis. (Abstract) Journal of Neuropathology and Experimental Neurology 29:137-138, 1970.
1970 Bernheimer,H.,Karbe,E.: :
[Morphological and neurochemical investigations of two types of amaurotic idiocy in the dog: Evidence of a GM2- gangliosidosis.] Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes: Nachweis einer GM2- Gangliosidose. Acta Neuropathologia 16:243-261, 1970.
Pubmed reference: 5478213 .
1970 Gambetti,L.A.,Kelly,A.M.,Steinberg,S.A.: :
Biochemical studies in a canine gangliosidosis Journal of Neuropathology and Experimental Neurology 29:137-138, 1970.
1967 Karbe,E.,Schiefer,B.: :
Familial amaurotic idiocy in male German Shorthair Pointers Pathologia Veterinaria 4:223-232, 1967.
Pubmed reference: 5624869 .