{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:10:37Z","timestamp":1774951837102,"version":"3.50.1"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1980,1,1]],"date-time":"1980-01-01T00:00:00Z","timestamp":315532800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[1980]]},"DOI":"10.1007\/bf00705807","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T06:27:20Z","timestamp":1101796040000},"page":"189-202","source":"Crossref","is-referenced-by-count":38,"title":["The AB-variant of GM2-gangliosidosis"],"prefix":"10.1007","volume":"52","author":[{"given":"James E.","family":"Goldman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuhiro","family":"Yamanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Rapin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masazumi","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinuko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1016\/S0021-9258(18)97335-7","volume":"240","author":"MB Abramson","year":"1965","unstructured":"Abramson MB, Norton WT, Katzman R (1965) Study of ionic structures in phospholipids by infrared spectra. J Biol Chem 240:2389?2395","journal-title":"J Biol Chem"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00684994","volume":"43","author":"M Adachi","year":"1978","unstructured":"Adachi M, Schneck L, Volk BW (1978) Progress in investigations in sphingolipidoses. Acta Neuropathol (Berl) 43:1?18","journal-title":"Acta Neuropathol (Berl)"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1007\/BF00684476","volume":"18","author":"M Adachi","year":"1971","unstructured":"Adachi M, Torii J, Karvounis PC, Volk BW (1971) Alterations of astrocytic organelles in various lipidoses and allied diseases. Acta Neuropathol (Berl) 18:74?83","journal-title":"Acta Neuropathol (Berl)"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1097\/00005072-196504000-00010","volume":"24","author":"F Aleu","year":"1965","unstructured":"Aleu F, Terry RD, Zellweger H (1965) Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24:304?317","journal-title":"J Neuropathol Exp Neurol"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/0003-2697(78)90373-1","volume":"89","author":"S Ando","year":"1978","unstructured":"Ando S, Chang N-C, Yu RK (1978) High performance thin layer chromatography and densitometric determination of brain ganglioside composition of several species. Anal Biochem 89:437?450","journal-title":"Anal Biochem"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/adc.48.10.775","volume":"48","author":"EM Brett","year":"1973","unstructured":"Brett EM, Ellis RB, Haas L, Ikonne JU, Lake BD, Patrick AD, Stephens R (1973) Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on eight patients. Arch Dis Child 48:775?785","journal-title":"Arch Dis Child"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"3979","DOI":"10.1073\/pnas.75.8.3979","volume":"75","author":"E Conzelmann","year":"1978","unstructured":"Conzelmann E, Sandhoff K (1978) AB-variant of infantile GM2-gangliosidosis. Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside Gm2 and glycolipid GA2. Proc Natl Acad Sci USA 75:3979?3983","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1432-1033.1978.tb12137.x","volume":"84","author":"E Conzelmann","year":"1978","unstructured":"Conzelmann E, Sandhoff K, Nehrkorn H, Geiger B, Arnon R (1978) Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis. Eur J Biochem 84:27?33","journal-title":"Eur J Biochem"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF00688395","volume":"33","author":"CM deBaccque","year":"1975","unstructured":"deBaccque CM, Suzuki K, Rapin I, Johnson AB, Whethers DL, Suzuki K (1975) GM2-gangliosidosis AB-variant. Clinico-pathological study of a case. Acta Neuropathol (Berl) 33:207?226","journal-title":"Acta Neuropathol (Berl)"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1515\/bchm2.1975.356.1.605","volume":"356","author":"G Fischer","year":"1975","unstructured":"Fischer G, Jatzkewitz H (1975) The activator of cerebroside sulfatase: Purification from human liver and identification as a protein. Z Physiol Chem 356:605?613","journal-title":"Z Physiol Chem"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S0021-9258(18)64849-5","volume":"226","author":"J Folch-Pi","year":"1959","unstructured":"Folch-Pi J, Lees MB, Sloane-Stanley GH (1959) A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497?509","journal-title":"J Biol Chem"},{"key":"CR12","first-page":"303","volume":"66","author":"LS Harrell","year":"1966","unstructured":"Harrell LS (1966) Tay-Sachs disease (amaurotic familial idiocy) in a non-Jewish male. A case report. J Am Osteopath Assoc 66:303?307","journal-title":"J Am Osteopath Assoc"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1139\/o77-044","volume":"55","author":"P Hechtman","year":"1977","unstructured":"Hechtman P (1977) Characterization of an activating factor required for hydrolysis of GM2-ganglioside catalyzed by hexosaminidase. Can J Biochem 55:315?324","journal-title":"Can J Biochem"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1073\/pnas.68.11.2810","volume":"68","author":"MW Ho","year":"1971","unstructured":"Ho MW, O'Brien JS (1971) Gaucher disease: Deficiency of ?acid? ?-glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci USA 68:2810?2813","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR15","first-page":"29","volume":"30","author":"JG Juif","year":"1973","unstructured":"Juif JG, Luckel JC, Nussbaum JL, Stoebner R, Kapps R (1973) La ganglioside GM2 avec deficit complet en ?-N-acetylhexosaminidase ou maladie de Sandhoff. Arch Franc P\u00e9d 30:29?43","journal-title":"Arch Franc P\u00e9d"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1471-4159.1970.tb02220.x","volume":"17","author":"C Klibansky","year":"1970","unstructured":"Klibansky C, Saifer A, Feldman NI, Schneck L, Volk BV (1970) Cerebral lipids in a case of systemic GM2-gangliosidosis of a late infantile type. J Neurochem 17:339?346","journal-title":"J Neurochem"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1212\/WNL.23.4.427","volume":"23","author":"EH Kolodny","year":"1973","unstructured":"Kolodny EH, Wald I, Moser HW, Cogan DG, Kuwabara T (1973) GM2-gangliosidosis without deficiency in the artificial substrate cleaving activity of hexosaminidases A and B. [Abstr]. Neurology (Minneap) 23:427","journal-title":"Neurology (Minneap)"},{"key":"CR18","first-page":"10","volume":"22","author":"SR Korey","year":"1963","unstructured":"Korey SR, Terry RD (1963) Studies in Tay-Sachs disease. I. B. Clinical and pathological descriptions. J Neuropathol Exp Neurol 22:10?17","journal-title":"J Neuropathol Exp Neurol"},{"key":"CR19","first-page":"1159","volume":"254","author":"SC Li","year":"1976","unstructured":"Li SC, Li YT (1976) An activator stimulating the enzymic hydrolysis of sphingoglycolipids. J Biol Chem 254:1159?1163","journal-title":"J Biol Chem"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","volume":"193","author":"OH Lowry","year":"1951","unstructured":"Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265?275","journal-title":"J Biol Chem"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0006-3002(59)90464-0","volume":"31","author":"GV Marinetti","year":"1959","unstructured":"Marinetti GV, Erbland J, Stotz E (1959) The quantitative analysis of plasmalogens by paper chromatography. Biochim Biophys Acta 31:251?252","journal-title":"Biochim Biophys Acta"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1001\/archneur.1971.00490010024003","volume":"25","author":"JH Menkes","year":"1971","unstructured":"Menkes JH, O'Brien JS, Okada S, Grippo J, Andrews JM, Cancilla PA (1971) Juvenile GM2-gangliosidosis. Biochemical and ultrastructural studies on a new variation of Tay-Sachs disease. Arch Neurol 25:14?22","journal-title":"Arch Neurol"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"856","DOI":"10.3891\/acta.chem.scand.13-0856","volume":"13","author":"T Miettinen","year":"1959","unstructured":"Miettinen T, Takki-Luukkainen IT (1959) Use of butyl acetate in determination of sialic acid. Acta Chem Scand 13:856?858","journal-title":"Acta Chem Scand"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1749-6632.1965.tb20193.x","volume":"122","author":"WT Norton","year":"1965","unstructured":"Norton WT, Autilio LA (1965) The chemical composition of bovine CNS myelin. Ann NY Acad Sci 122:77?85","journal-title":"Ann NY Acad Sci"},{"key":"CR25","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1471-4159.1966.tb06794.x","volume":"13","author":"WT Norton","year":"1966","unstructured":"Norton WT, Autilio LA (1966) The lipid composition of purified bovine brain myelin. J Neurochem 13:213?222","journal-title":"J Neurochem"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1212\/WNL.28.11.1117","volume":"28","author":"B O'Neill","year":"1978","unstructured":"O'Neill B, Butler AB, Young E, Falk PM, Bass N (1978) Adultonset GM2-gangliosidosis, seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation. Neurology (Minneap) 28: 1117?1123","journal-title":"Neurology (Minneap)"},{"key":"CR27","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1055\/s-0028-1110836","volume":"39","author":"H Pilz","year":"1968","unstructured":"Pilz H, M\u00fcller D, Sandhoff K, ter Meulen V (1968) Tay-Sachs'sche Krankheit mit Hexosaminidase-Defekt. Dtsch Med Wochenschr 39:1833?1839","journal-title":"Dtsch Med Wochenschr"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/276520a0","volume":"276","author":"DP Purpura","year":"1978","unstructured":"Purpura DP (1978) Ectopic dendritic growth in mature pyramidal neurones in human ganglioside storage disease. Nature 276:520?521","journal-title":"Nature"},{"key":"CR29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0006-8993(76)90245-6","volume":"116","author":"DP Purpura","year":"1976","unstructured":"Purpura DP, Suzuki K (1976) Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116:1?21","journal-title":"Brain Res"},{"key":"CR30","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1001\/archneur.1976.00500020048008","volume":"33","author":"I Rapin","year":"1976","unstructured":"Rapin I, Suzuki K, Suzuki K, Valsamis MP (1976) Adult (chronic) GM2-gangliosidosis. Arch Neurol 33:120?130","journal-title":"Arch Neurol"},{"key":"CR31","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/0024-3205(68)90024-6","volume":"7","author":"K Sandhoff","year":"1968","unstructured":"Sandhoff K, Andreae U, Jatzkewitz H (1968) Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci 7:283?288","journal-title":"Life Sci"},{"key":"CR32","doi-asserted-by":"crossref","first-page":"2469","DOI":"10.1111\/j.1471-4159.1971.tb00204.x","volume":"18","author":"K Sandhoff","year":"1971","unstructured":"Sandhoff K, Harzer K, W\u00e4ssle N, Jatzkewitz H (1971) Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem 18:2469?2489","journal-title":"J Neurochem"},{"key":"CR33","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/978-1-4757-6570-0_22","volume-title":"Sphingolipids, sphingolipidoses, and allied disorders","author":"K Sandhoff","year":"1972","unstructured":"Sandhoff K, Jatzkewitz H (1972) The chemical pathology of Tay-Sachs disease. In: Volk BW, Aronson SM (eds) Sphingolipids, sphingolipidoses, and allied disorders. Plenum Press, New York, pp 305?319"},{"key":"CR34","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/0009-8981(60)90035-8","volume":"5","author":"RL Searcy","year":"1960","unstructured":"Searcy RL, Bergquist LM (1960) A new color reaction for the quantitation of serum cholesterol. Clin Chim Acta 5:192?199","journal-title":"Clin Chim Acta"},{"key":"CR35","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1016\/0024-3205(64)90040-2","volume":"3","author":"K Suzuki","year":"1964","unstructured":"Suzuki K (1964) A simple and accurate micromethod for quantitative determination of ganglioside patterns. Life Sci 3:1227?1233","journal-title":"Life Sci"},{"key":"CR36","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/B978-1-4831-9855-2.50018-6","volume-title":"Inborn disorders of sphingolipid metabolism","author":"K Suzuki","year":"1967","unstructured":"Suzuki K (1967) Ganglioside patterns of normal and pathological brains. In: Aronson SM, Volk BW (eds) Inborn disorders of sphingolipid metabolism. Pergamon Press, Oxford, pp 215?230"},{"key":"CR37","first-page":"456","volume-title":"Methods in enzymology, vol 50, part C","author":"K Suzuki","year":"1978","unstructured":"Suzuki K (1978) Enzymatic diagnosis of sphingolipidoses. In: Ginsburg V (ed) Methods in enzymology, vol 50, part C. Academic Press, New York, pp 456?488"},{"key":"CR38","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/00005072-196901000-00003","volume":"28","author":"K Suzuki","year":"1969","unstructured":"Suzuki K, Suzuki K, Kamoshita S (1969) Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 28:25?73","journal-title":"J Neuropathol Exp Neurol"},{"key":"CR39","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1212\/WNL.20.2.190","volume":"20","author":"K Suzuki","year":"1970","unstructured":"Suzuki K, Suzuki K, Rapin I, Suzuki Y, Ishii N (1970) Juvenile GM2-gangliosidosis, Clinical variant of Tay-Sachs disease or a new disease. Neurology (Minneap) 20:190?204","journal-title":"Neurology (Minneap)"},{"key":"CR40","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1212\/WNL.21.4.313","volume":"21","author":"Y Suzuki","year":"1971","unstructured":"Suzuki Y, Jacob K, Suzuki K, Kutty KM, Suzuki K (1971) GM2-gangliosidosis with total hexosaminidase deficiency. Neurology (Minneap) 21:313?328","journal-title":"Neurology (Minneap)"},{"key":"CR41","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1111\/j.1471-4159.1956.tb12053.x","volume":"1","author":"L Svennerholm","year":"1956","unstructured":"Svennerholm L (1956) Quantitative estimation of cerebroside in nervous tissue. J Neurochem 1:42?53","journal-title":"J Neurochem"},{"key":"CR42","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1016\/0006-3002(57)90254-8","volume":"24","author":"L Svennerholm","year":"1957","unstructured":"Svennerholm L (1957) Quantitative estimation of sialic acids II. Colorimetric resorcinol hydrochloric acid method. Biochim Biophys Acta 24:604?611","journal-title":"Biochim Biophys Acta"},{"key":"CR43","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/j.1471-4159.1963.tb08933.x","volume":"10","author":"L Svennerholm","year":"1963","unstructured":"Svennerholm L (1963) Chromatographic separation of human brain gangliosides. J Neurochem 10:612?623","journal-title":"J Neurochem"},{"key":"CR44","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/00005072-196301000-00003","volume":"22","author":"RD Terry","year":"1963","unstructured":"Terry RD, Weiss M (1963) Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum. J Neuropathol Exp Neurol 22:18?55","journal-title":"J Neuropathol Exp Neurol"},{"key":"CR45","first-page":"45","volume":"30","author":"M Vidailhet","year":"1973","unstructured":"Vidailhet M, Neimann N, Grignon G, Hartemann, P, Philippart M, Paysant P, Nabet P, Floquet J (1973) Maladie de Sandhoff (gangliosidose a GM2, de type 2). Arch Franc P\u00e9d 30:45?60","journal-title":"Arch Franc P\u00e9d"},{"key":"CR46","first-page":"393","volume":"87","author":"BW Volk","year":"1969","unstructured":"Volk BW, Adachi M, Schneck L, Saifer A, Kleinberg W (1969) G5-ganglioside variant of systemic late infantile lipidosis. Arch Path 87:393?403","journal-title":"Arch Path"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00705807.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00705807\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00705807","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T02:01:57Z","timestamp":1625018517000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00705807"}},"subtitle":["Clinical, biochemical, and pathological studies of two patients"],"short-title":[],"issued":{"date-parts":[[1980]]},"references-count":46,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1980]]}},"alternative-id":["BF00705807"],"URL":"https:\/\/doi.org\/10.1007\/bf00705807","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980]]}}}