{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T17:45:39Z","timestamp":1759513539054,"version":"3.35.0"},"reference-count":84,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1978,3,1]]},"DOI":"10.1136\/jnnp.41.3.232","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:02:42Z","timestamp":1226350962000},"page":"232-248","source":"Crossref","is-referenced-by-count":43,"title":["Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system."],"prefix":"10.1136","volume":"41","author":[{"given":"J J","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Ceuterick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1203\/00006450-197607000-00008","article-title":"Ultrastructural studies in fetal I-cell disease","volume":"10","author":"Abe, K.; Matsuda, I.; S., Arashima; Mitsuyama, T.; Oka, Y.; Ishikawa, M.","year":"1976","unstructured":"Abe, K., Matsuda, I., Arashima. S., Mitsuyama, T., Oka, Y., and Ishikawa, M. (1976). Ultrastructural studies in fetal I-cell disease. Pediatric Research. 10, 669-676.","journal-title":"Pediatric Research"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1056\/NEJM197211092871902","article-title":"Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients","volume":"287","author":"Angelini, C.; Engel, A.G.; Titus, J.L.","year":"1972","unstructured":"Angelini, C., Engel, A. G., and Titus, J. L. (1972). Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients. New England Journal of Medicine, 287, 948-951.","journal-title":"New England Journal of Medicine"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1055\/s-0028-1091667","article-title":"Cytosome morphology and distribution of generalized ceroid-lipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity","volume":"6","author":"Anzil, A.P.; Blinzinger, K.; Harzer, K.; Reither, M.; Zimmermann, G.","year":"1975","unstructured":"Anzil, A. P., Blinzinger, K., Harzer, K., Reither, M., and Zimmermann, G. (1975). Cytosome morphology and distribution of generalized ceroid-lipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity. Neuropadiatrie, 6, 259-283.","journal-title":"Neuropadiatrie"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1136\/jnnp.38.10.994","article-title":"An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroidlipofuscinosis","volume":"38","author":"Arsenio-Nunes, M.L.; Goutieres, F.","year":"1975","unstructured":"Arsenio-Nunes, M. L., and Goutieres, F. (1975). An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroidlipofuscinosis. Journal of Neurology, Neurosurgery, and Psychiatry, 38, 994-999.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0022-3476(75)80583-X","article-title":"Prenatal diagnosis and fetal pathology of I-cell disease (Mucolipidosis II)","volume":"87","year":"1975","unstructured":"Aula. P., Rapola, J., Autio, S., Raivio, K., and Karjalainen, 0. (1975). Prenatal diagnosis and fetal pathology of I-cell disease (Mucolipidosis II). Journal of Pediatrics, 87, 221-226.","journal-title":"Journal of Pediatrics"},{"key":"ref_6","first-page":"511","article-title":"Ultrastructure of the skin in the genetic mucopolysaccharidoses. A rchives of","volume":"94","author":"Belcher, R.W.","year":"1972","unstructured":"Belcher, R. W. (1972). Ultrastructure of the skin in the genetic mucopolysaccharidoses. A rchives of Pathology, 94, 511-518.","journal-title":"Pathology"},{"key":"ref_7","first-page":"339","article-title":"Ultrastructure and function of eccerine glands in the mucopolysaccharidoses","volume":"96","author":"Belcher, R.W.","year":"1973","unstructured":"Belcher, R. W. (1973). Ultrastructure and function of eccerine glands in the mucopolysaccharidoses. Archives of Pathology. 96, 339-341.","journal-title":"Archives of Pathology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1600-0560.1975.tb00161.x","article-title":"The diagnosis of mucopolysaccharidoses by electron microscopy of skin biopsies","volume":"2","author":"Bioulac, P.; Mercier, M.; Beylot, C.; Fontan, D.","year":"1975","unstructured":"Bioulac, P., Mercier, M., Beylot, C., and Fontan, D. (1975). The diagnosis of mucopolysaccharidoses by electron microscopy of skin biopsies. Journal of Cutaneous Pathology. 2, 179-190.","journal-title":"Journal of Cutaneous Pathology"},{"key":"ref_9","article-title":"Conjunctival eye signs in GM1 type I gangliosidosis. Birth Defects: Original Article Series","volume-title":"The National","author":"Boniuk, V.; Ghosh, M.; Galin, M.A.","year":"1976","unstructured":"Boniuk, V., Ghosh, M., and Galin, M. A. (1976). Conjunctival eye signs in GM1 type I gangliosidosis. Birth Defects: Original Article Series, The National"},{"key":"ref_10","first-page":"543","volume":"3","author":"Foundation, XII, Vol","unstructured":"Foundation, Vol. XII. No. 3, 543-551."},{"year":"1972","author":"Carpenter, S.; Karpati, G.; Andermann, F.","key":"ref_11","unstructured":"Carpenter, S., Karpati, G., and Andermann, F. (1972)."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/0022-510X(73)90021-X","article-title":"A type of juvenile cerebromascular degeneration characterized by granular osmiophilic deposits","volume":"18","author":"Carpenter, S.; Karpati, G.; Wolfe, L.S.; Andermann, F.","year":"1973","unstructured":"Carpenter, S., Karpati, G., Wolfe, L. S., and Andermann, F. (1973). A type of juvenile cerebromascular degeneration characterized by granular osmiophilic deposits. Journal of the Neurological Sciences, 18, 67-87.","journal-title":"Journal of the Neurological Sciences"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/brain\/100.1.137","article-title":"The ultrastructural characteristics of the abnormal cytosomes in BattenKuf's disease","volume":"100","author":"Carpenter, S.; Karpati, G.; Andermann, F.; Jacob, J.C.; Andermann, E.","year":"1977","unstructured":"Carpenter, S., Karpati, G., Andermann, F., Jacob, J. C.. and Andermann, E. (1977). The ultrastructural characteristics of the abnormal cytosomes in BattenKuf's disease. Brain, 100, 137-156.","journal-title":"Brain"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1055\/s-0028-1091627","article-title":"The diagnosis of infantile generalized ceroid-lipofuscinosis (type HagbergSantavuori) using skin biopsy","volume":"7","author":"Ceuterick, Ch; Martin, J.J.; Casaer, P.; Edgar, G.W.F.","year":"1976","unstructured":"Ceuterick, Ch., Martin, J. J., Casaer, P.. and Edgar, G. W. F. (1976). The diagnosis of infantile generalized ceroid-lipofuscinosis (type HagbergSantavuori) using skin biopsy. Neuropadiatrie, 7, 250-260.","journal-title":"Neuropadiatrie"},{"key":"ref_15","first-page":"139","article-title":"Late infantile neuronal storage disease with curvilinear bodies. Systemic pathologic features","volume":"10","author":"de Baecque. C.; Pollack, M.A.; Suzuki, K.","year":"1976","unstructured":"de Baecque. C., Pollack, M. A., and Suzuki, K. (1976). Late infantile neuronal storage disease with curvilinear bodies. Systemic pathologic features. Archives of Pathology and Laboratory Medicine, 10, 139-144.","journal-title":"Archives of Pathology and Laboratory Medicine"},{"key":"ref_16","first-page":"425","article-title":"Visceral lesions in amaurotic familial idiocy with curvilinear bodies. A rchives of","volume":"94","author":"Dolman, C.L.; Chang, E.","year":"1972","unstructured":"Dolman, C. L., and Chang, E. (1972). Visceral lesions in amaurotic familial idiocy with curvilinear bodies. A rchives of Pathology, 94, 425-430.","journal-title":"Pathology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1017\/S0317167100019995","article-title":"Skin punch biopsies and leukocytes in a diagnosis of lipidoses","volume":"2","author":"L., Dolman C.; MacLeod, P.M.; Chang, E.","year":"1975","unstructured":"Dolman. C. L., MacLeod, P. M., and Chang, E. (1975). Skin punch biopsies and leukocytes in a diagnosis of lipidoses. Canadian Journal of Neurological Sciences, 2, 67-73.","journal-title":"Canadian Journal of Neurological Sciences"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1136\/jnnp.40.6.588","article-title":"Fine structure of cutaneous nerves in ganglioside storage disease","volume":"40","author":"Dolman, C.L.; MacLeod, P.M.; Chang, E.","year":"1977","unstructured":"Dolman, C. L., MacLeod, P. M., and Chang, E. (1977). Fine structure of cutaneous nerves in ganglioside storage disease. Journal of Neurology, Neurosurgery, and Psychiatry, 40, 588-594.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1001\/archneur.1977.00500130059012","article-title":"Skin punch biopsy in the diagnosis of juvenile neuronal ceroidlipofuscinosis. A comparison with leukocyte peroxidase assay","volume":"34","author":"Farrell, D.F.; Sumi, S.M.","year":"1977","unstructured":"Farrell, D. F., and Sumi, S. M. (1977). Skin punch biopsy in the diagnosis of juvenile neuronal ceroidlipofuscinosis. A comparison with leukocyte peroxidase assay. Archives of Neurology (Chicago), 34, 39-44.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_20","article-title":"Ultrastructure of cultured fibroblasts in I-cell disease","author":"Hanai, J.; Leroy, J.; O'Brien, J.S.","year":"1971","unstructured":"Hanai, J., Leroy, J., and O'Brien, J. S. (1971). Ultrastructure of cultured fibroblasts in I-cell disease."},{"key":"ref_21","first-page":"34","article-title":"Diseases of","volume":"122","author":"American Journal of","unstructured":"American Journal of Diseases of Children, 122, 34-","journal-title":"Children"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/jid.1965.22","article-title":"Angiokeratoma corporis diffusum (Fabry). Histochemical and electron microscopic studies of the skin","volume":"44","author":"Hashimoto, K.; Gross, B.G.; Lever, W.F.","year":"1965","unstructured":"Hashimoto, K., Gross, B. G., and Lever, W. F. (1965). Angiokeratoma corporis diffusum (Fabry). Histochemical and electron microscopic studies of the skin. Journal of Investigative Dermatology, 44, 119-128.","journal-title":"Journal of Investigative Dermatology"},{"year":"1973","author":"Hug, G.; Schubert, W.K.; Soukup, S.W.","key":"ref_23","unstructured":"Hug, G., Schubert, W. K., and Soukup, S. W. (1973)."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1056\/NEJM197301252880420","article-title":"Type II glycogenosis in adults","volume":"288","unstructured":"Type II glycogenosis in adults. New England Journal of Medicine. 288, 216-217.","journal-title":"New England Journal of Medicine"},{"key":"ref_25","first-page":"59","article-title":"Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features","volume":"73","author":"Kamensky, E.; Philippart, M.; Cancilla, P.; Frommes, S.P.","year":"1973","unstructured":"Kamensky, E., Philippart, M., Cancilla, P., and Frommes, S. P. (1973). Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features. American Journal of Pathology, 73, 59-80.","journal-title":"American Journal of Pathology"},{"key":"ref_26","first-page":"133","article-title":"Ocular manifestations and pathology of systemic mucopolysaccharidoses. In Birth Defects: Original Article","volume":"3","author":"Kenyon, K.R.","year":"1976","unstructured":"Kenyon, K. R. (1976). Ocular manifestations and pathology of systemic mucopolysaccharidoses. In Birth Defects: Original Article Series, The National Foundation, Vol. XII, No. 3, 133-153.","journal-title":"Series, The National Foundation"},{"key":"ref_27","first-page":"555","article-title":"Mucolipidosis II (I-cell disease): Ultrastructural observations of conjunctiva and skin","volume":"10","author":"R., Kenyon K.; Sensenbrenner, J.A.","year":"1971","unstructured":"Kenyon. K. R., and Sensenbrenner, J. A. (1971). Mucolipidosis II (I-cell disease): Ultrastructural observations of conjunctiva and skin. Investigative Ophthalmology, 10, 555-567.","journal-title":"Investigative Ophthalmology"},{"key":"ref_28","first-page":"811","article-title":"The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin","volume":"73","author":"Kenyon, K.R.; Quigley, H.A.; Hussels, I.E.; Wyllie, R.G.","year":"1972","unstructured":"Kenyon, K. R., Quigley, H. A., Hussels, I. E.. and Wyllie, R. G. (1972). The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. American Journal of Ophthalmology, 73, 811-833.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1399-0004.1976.tb02272.x","article-title":"Beta-galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM,-gangliosidosis","volume":"9","author":"Koster, J.F.; Niermeijer, M.F.; Loonen, M.C.B.; H, Galjaard","year":"1976","unstructured":"Koster, J. F., Niermeijer, M. F., Loonen, M. C. B., and Galjaard. H. (1976). Beta-galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM,-gangliosidosis. Clinical Genetics, 9, 427-432.","journal-title":"Clinical Genetics"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1542\/peds.57.2.205","article-title":"Fucosidosis type 2","volume":"57","author":"Kousseff, B.G.; Beratis, N.G.; Strauss, L.Brill; W., P.; Rosenfield, R.E.Kaplan; B.; Hirschhorn, K.","year":"1976","unstructured":"Kousseff, B. G., Beratis, N. G., Strauss, L.. Brill, P. W., Rosenfield, R. E.. Kaplan, B., and Hirschhorn, K. (1976). Fucosidosis type 2. Pediatrics, 57, 205-213.","journal-title":"Pediatrics"},{"key":"ref_31","first-page":"335","article-title":"La gangliosidose a GM, (forme infantile). A propos de cinq observations","volume":"229","author":"Larbre, F.; Chazalette, J.P.; Guibaud, P.; Richard, P.; Pernoud, N.; Vanier, M.T.","year":"1973","unstructured":"Larbre, F., Chazalette, J. P., Guibaud, P., Richard, P., Pernoud, N., and Vanier, M. T. (1973). La gangliosidose a GM, (forme infantile). A propos de cinq observations. Lyon Medical, 229, 335-346.","journal-title":"Lyon Medical"},{"key":"ref_32","first-page":"173","article-title":"Ultrastructure of the skin in mucopolysaccharidoses. Studies performed before and after plasma infusion therapy","volume":"99","author":"Lasser, A.; Carter, M.D.; Mahoney, M.J.","year":"1975","unstructured":"Lasser, A., Carter, M. D., and Mahoney, M. J. (1975). Ultrastructure of the skin in mucopolysaccharidoses. Studies performed before and after plasma infusion therapy. Archives of Pathology, 99, 173-176.","journal-title":"Archives of Pathology"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1111\/j.1399-0004.1976.tb01608.x","article-title":"Mucolipidosis II and III: different residual activity of betagalactosidase in cultured fibroblasts","volume":"9","author":"Leroy, J.G.; O'Brien, J.S.","year":"1976","unstructured":"Leroy, J. G., and O'Brien, J. S. (1976). Mucolipidosis II and III: different residual activity of betagalactosidase in cultured fibroblasts. Clinical Genetics, 9, 533-539.","journal-title":"Clinical Genetics"},{"key":"ref_34","article-title":"Diagnostic des maladies lysosomiales de stockage par biopsie conjonctivale. Manuscript awarded the Merck-Sharp-Dohme award for neurological sciences","author":"Libert, J.","year":"1977","unstructured":"Libert, J. (1977). Diagnostic des maladies lysosomiales de stockage par biopsie conjonctivale. Manuscript awarded the Merck-Sharp-Dohme award for neurological sciences. Belgian Society of Neurology: Brussels."},{"key":"ref_35","article-title":"Diagnosis of type A","author":"Libert, J.; Danis, P.","year":"1975","unstructured":"Libert, J., and Danis, P. (1975). Diagnosis of type A"},{"key":"ref_36","article-title":"La mannosidose: Aspects anatomopathologiques en microscopie electronique","author":"Libert, J.; M, Tondeur","year":"1977","unstructured":"Libert, J., and Tondeur. M. (1977). La mannosidose: Aspects anatomopathologiques en microscopie electronique. In Les Oligosaccharidoses. Edited by"},{"year":"1976","author":"Libert, J.; Tondeur, M.; Van Hoof, F.","key":"ref_37","unstructured":"Libert, J., Tondeur, M., and Van Hoof, F. (1976a)."},{"key":"ref_38","first-page":"221","article-title":"The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease. In Birth Defects: Original Article","volume":"3","unstructured":"The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease. In Birth Defects: Original Article Series, The National Foundation, Vol. XII, No. 3, 221-239.","journal-title":"Series, The National Foundation"},{"key":"ref_39","article-title":"Fucosidosis: ultrastructural study of conjunctiva and skin enzyme analysis of tears","author":"Libert, J.; Van Hoof, F.; Tondeur, M.","year":"1976","unstructured":"Libert, J., Van Hoof, F., and Tondeur, M. (1976b). Fucosidosis: ultrastructural study of conjunctiva and skin enzyme analysis of tears. Investigative"},{"key":"ref_40","article-title":"La fucosidose: Aspects anatomo-pathologiques en microscopie electronique. In Les oligosaccharidoses","author":"Libert, J.; Tondeur, M.; Martin, J.J.","year":"1977","unstructured":"Libert, J., Tondeur, M., and Martin, J. J. (1977a). La fucosidose: Aspects anatomo-pathologiques en microscopie electronique. In Les oligosaccharidoses."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/0002-9394(77)90126-X","article-title":"Ocular findings in I-cell disease (mucolipidosis type II)","volume":"83","author":"Libert, J.; Van Hoof, F.; Farriaux, J.P.; Toussaint, D.","year":"1977","unstructured":"Libert, J., Van Hoof, F., Farriaux, J. P., and Toussaint, D. (1977b). Ocular findings in I-cell disease (mucolipidosis type II). A merican Journal of Ophthalmology, 83, 617-628.","journal-title":"A merican Journal of Ophthalmology"},{"key":"ref_42","article-title":"Les ceroide-lipofuscinoses: ultrastructure oculaire et diagnostic par biopsie conjonctivale","author":"Libert, J.; Martin, J.J.; Evrard, P.; Verougstraete, C.; Danis, P.","year":"1978","unstructured":"Libert, J., Martin, J. J., Evrard, P., Verougstraete, C.. and Danis, P. (1978). Les ceroide-lipofuscinoses: ultrastructure oculaire et diagnostic par biopsie conjonctivale. Archives Francaises d'Ophtalmologie (Paris). In press.","journal-title":"Archives Francaises"},{"key":"ref_43","first-page":"785","article-title":"Angiokeratoma corporis diffusum and lysosomal enzyme deficiency","volume":"2","author":"Loonen, M.C.B.; van de Lugt, L.; Franke, C.L.","year":"1974","unstructured":"Loonen, M. C. B., van de Lugt, L.. and Franke, C. L. (1974). Angiokeratoma corporis diffusum and lysosomal enzyme deficiency. Lancet, 2, 785.","journal-title":"Lancet"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0022-510X(73)90165-2","article-title":"Aspects ultrastructuraux et signification biochimique des granulations metachromatiques et autres inclusions dans les fibroblastes en culture provenant de lipidoses et de mucopolysaccharidoses","volume":"19","author":"Lyon, G.; C., Hors-Cayla M.; Jonsson, V.; Maroteaux, P.","year":"1973","unstructured":"Lyon, G., Hors-Cayla. M. C., Jonsson, V., and Maroteaux, P. (1973). Aspects ultrastructuraux et signification biochimique des granulations metachromatiques et autres inclusions dans les fibroblastes en culture provenant de lipidoses et de mucopolysaccharidoses. Journal of the Neurological Sciences, 19, 235-253.","journal-title":"Journal of the Neurological Sciences"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1212\/WNL.27.6.571","article-title":"Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease","volume":"27","author":"MacLeod, P.M.; S., Wood; Jan, J.E.; Applegarth, D.A.; Dolman, C.L.","year":"1977","unstructured":"MacLeod, P. M., Wood. S., Jan, J. E., Applegarth, D. A., and Dolman, C. L. (1977). Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease. Neurology (Minneapolis), 27, 571-573.","journal-title":"Neurology (Minneapolis)"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000114283","article-title":"Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies","volume":"10","author":"Martin, J.J.; Jacobs, K.","year":"1973","unstructured":"Martin, J. J., and Jacobs, K. (1973). Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies. European Neurology, 10, 281-291.","journal-title":"European Neurology"},{"key":"ref_47","first-page":"263","article-title":"Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses)","volume":"9","author":"Martin, J.J.; de Groote; Ch","year":"1974","unstructured":"Martin, J. J., and de Groote, Ch. (1974). Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses). Pathologia Europaea, 9, 263-272.","journal-title":"Pathologia Europaea"},{"key":"ref_48","article-title":"La mucolipidose II ou \"I-cell disease\". Aspects anatomopathologiques","author":"Martin, J.J.; L, Libert","year":"1977","unstructured":"Martin, J. J., and Libert. L. (1977). La mucolipidose II ou \"I-cell disease\". Aspects anatomopathologiques. In Les Oligosaccharidoses. Edited by J. P. Farriaux. Editions Crouan et Roques: Lilles."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF00686161","article-title":"I-cell disease (mucolipidosis II). A report on its pathology","volume":"33","author":"Martin, J.J.; Leroy, J.G.; Farriaux, J.P.; Fontaine, G.; Desnick, R.J.; Cabello, A.","year":"1975","unstructured":"Martin, J. J., Leroy, J. G., Farriaux, J. P., Fontaine, G., Desnick, R. J., and Cabello, A. (1975). I-cell disease (mucolipidosis II). A report on its pathology. Acta Neuropathologica (Berlin), 33, 285-305.","journal-title":"Acta Neuropathologica (Berlin)"},{"year":"1976","author":"Martin, J.J.; Ceuterick, Ch; Leroy, J.G.","key":"ref_50","unstructured":"Martin, J. J., Ceuterick, Ch., and Leroy, J. G. (1976a)."},{"year":"1976","author":"Martin, J.J.; Ceuterick, Ch; Leroy, J.G.","key":"ref_51","unstructured":"Martin, J. J., Ceuterick, Ch., and Leroy, J. G. (1976b)."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1055\/s-0028-1091515","article-title":"Encephalopathy associated with lamellar residual bodies in astrocytes (Towfighi, Grover and Gonatas 1975): A new observation","volume":"8","author":"Martin, J.J.; Martin, L.; Ceuterick, Ch","year":"1977","unstructured":"Martin, J. J., Martin, L., and Ceuterick, Ch. (1977a). Encephalopathy associated with lamellar residual bodies in astrocytes (Towfighi, Grover and Gonatas 1975): A new observation. Neuropadiatrie, 8, 181-189.","journal-title":"Neuropadiatrie"},{"key":"ref_53","first-page":"247","article-title":"Skin and conjunctival biopsies in adrenoleukodystrophy. A cta Neuropathologica","volume":"38","author":"Martin, J.J.; Ceuterick, Ch; Martin, L.; Libert, J.","year":"1977","unstructured":"Martin, J. J., Ceuterick, Ch., Martin, L., and Libert, J. (1977b). Skin and conjunctival biopsies in adrenoleukodystrophy. A cta Neuropathologica (Berlin), 38, 247-250.","journal-title":"(Berlin)"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1136\/jmg.11.2.133","article-title":"Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures","volume":"11","author":"McLean, J.; Stewart, G.","year":"1974","unstructured":"McLean, J., and Stewart, G. (1974). Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures. Journal of Medical Genetics, 11, 133-135.","journal-title":"Journal of Medical Genetics"},{"key":"ref_55","first-page":"437","article-title":"Mucolipidosis IV: ocular, systemic, and ultrastructural findings","volume":"14","author":"Merin, S.; Livni, N.; Berman, E.R.; Yatziv, S.","year":"1975","unstructured":"Merin, S., Livni, N., Berman, E. R., and Yatziv, S. (1975). Mucolipidosis IV: ocular, systemic, and ultrastructural findings. Investigative Ophthalmology, 14, 437-448.","journal-title":"Investigative Ophthalmology"},{"key":"ref_56","first-page":"2380","article-title":"Insuffisance mitrale et maladie de Hurler. A propos de deux observations chez des demi-freres. Annales de Pediatrie (Semaine des H6pitaux de","volume":"44","author":"Neimann, N.; Pernot, C.; Marchal, Cl; Fall, M.","year":"1968","unstructured":"Neimann, N., Pernot, C., Marchal, Cl., and Fall, M. (1968). Insuffisance mitrale et maladie de Hurler. A propos de deux observations chez des demi-freres. Annales de Pediatrie (Semaine des H6pitaux de Paris), 44, 2380\/P. 612-2386\/P. 618.","journal-title":"Paris)"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1001\/archneur.1975.00490510048002","article-title":"Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens","volume":"32","author":"O'Brien, J.S.; Bernett, J.; Veath, M.L.; Paa, D.","year":"1975","unstructured":"O'Brien, J. S., Bernett, J., Veath, M. L., and Paa, D. (1975). Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens. Archives of Neurology (Chicago), 32, 592-599.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1399-0004.1976.tb02269.x","article-title":"Clinical and biochemical expression of a unique mucopolysaccharidosis","volume":"9","author":"O'Brien, J.S.; Nyhan, W.L.; Shear, C.; Schmidt, L.; Veath, M.L.","year":"1976","unstructured":"O'Brien, J. S., Nyhan, W. L., Shear, C., Schmidt, L., and Veath, M. L. (1976a). Clinical and biochemical expression of a unique mucopolysaccharidosis. Clinical Genetics, 9, 399-411.","journal-title":"Clinical Genetics"},{"key":"ref_59","first-page":"495504","article-title":"Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid betagalactosidase deficiency","volume":"9","author":"O'Brien, J.S.; Gugler, E.; Giedion, A.; Wiessmann, U.; Herschkowitz, N.; Meier, C.; Leroy, J.","year":"1976","unstructured":"O'Brien, J. S., Gugler, E., Giedion, A., Wiessmann, U., Herschkowitz, N., Meier, C., and Leroy, J. (1976b). Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid betagalactosidase deficiency. Clinical Genetics, 9, 495504.","journal-title":"Clinical Genetics"},{"key":"ref_60","article-title":"Low activity of hexosaminidase A and B in two adult sisters with spinocerebellar degeneration","author":"Oonk, J.G.W.; van der Helm, H.J.; Martin, J.J.","year":"1978","unstructured":"Oonk, J. G. W., van der Helm, H. J., and Martin, J. J. (1978). Low activity of hexosaminidase A and B in two adult sisters with spinocerebellar degeneration. Neurology (Minneapolis). In press.","journal-title":"Neurology"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1126\/science.176.4033.426","article-title":"Deficiency of alpha-L-fucosidase","volume":"176","author":"Patel, V.; Watanabe, I.; Zeman, W.","year":"1972","unstructured":"Patel, V., Watanabe, I., and Zeman, W. (1972). Deficiency of alpha-L-fucosidase. Science, 176, 426-427.","journal-title":"Science"},{"year":"1976","author":"Pilz, H.; Goebel, H.H.; O'Brien, J.S.","key":"ref_62","unstructured":"Pilz, H., Goebel, H. H., and O'Brien, J. S. (1976)."},{"key":"ref_63","first-page":"568","article-title":"Conjunctival ultrastructure in mucolipidosis III (pseudoHurler polydystrophy)","volume":"10","author":"Quigley, H.A.; Goldberg, M.F.","year":"1971","unstructured":"Quigley, H. A., and Goldberg, M. F. (1971). Conjunctival ultrastructure in mucolipidosis III (pseudoHurler polydystrophy). Investigative Ophthalmology, 10, 568-580.","journal-title":"Investigative Ophthalmology"},{"key":"ref_64","article-title":"Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype)","author":"Quigley, H.A.; Kenyon, K.R.","year":"1974","unstructured":"Quigley, H. A., and Kenyon, K. R. (1974). Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype)."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/0002-9394(74)90383-3","volume":"77","unstructured":"American Journal of Ophthalmology, 77, 809-818.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1001\/archneur.1976.00500020048008","article-title":"Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship","volume":"33","author":"Rapin, I.; Suzuki, K.; Suzuki, K.; Valsamis, M.P.","year":"1976","unstructured":"Rapin, I., Suzuki, K., Suzuki, K., and Valsamis, M. P. (1976). Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship Archives of Neurology (Chicago), 33, 120-130.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1399-0004.1977.tb01286.x","article-title":"Morphology of the placenta in fetal I-cell disease","volume":"11","author":"Rapola, J.; Aula, P.","year":"1977","unstructured":"Rapola, J., and Aula, P. (1977). Morphology of the placenta in fetal I-cell disease. Clinical Genetics, 11, 107-113.","journal-title":"Clinical Genetics"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/brain\/96.4.833","article-title":"Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroidlipofuscinosis","volume":"96","author":"Rapola, P.; Haltia, M.","year":"1973","unstructured":"Rapola, P., and Haltia, M. (1973). Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroidlipofuscinosis. Brain, 96, 833-840.","journal-title":"Brain"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S0022-3476(74)80294-5","article-title":"Lymphocytic inclusions in I-cell disease","volume":"85","author":"Rapola, J.; Autio, S.; Aula, P.; Nanto, V.","year":"1974","unstructured":"Rapola, J., Autio, S., Aula, P., and Nanto, V. (1974). Lymphocytic inclusions in I-cell disease. Journal of Pediatrics, 85, 88-90.","journal-title":"Journal of Pediatrics"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1159\/000113965","article-title":"Generalized gangliosidosisGM1 (Landing disease). II Morphological study","volume":"3","author":"Roels, H.; Quatacker, J.; Kint, A.; Vander Eecken, H.; Vrints, L.","year":"1970","unstructured":"Roels, H., Quatacker, J., Kint, A., Vander Eecken, H., and Vrints, L. (1970). Generalized gangliosidosisGM1 (Landing disease). II Morphological study. European Neurology, 3, 129-160.","journal-title":"European Neurology"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1001\/archneur.1975.00490510033001","article-title":"Adrenoleukodystrophy. A clinical and pathological study of 17 cases","volume":"32","author":"Schaumburg, H.H.; Powers, J.M.; Raine, C.S.; Suzuki, K.; Richardson, E.P.","year":"1975","unstructured":"Schaumburg, H. H., Powers, J. M., Raine, C. S., Suzuki, K., and Richardson, E. P. (1975). Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Archives of Neurology (Chicago), 32, 577-591.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_72","first-page":"753","article-title":"A newly recognized forme fruste of Hurler's disease (gargoylism)","volume":"53","author":"Scheie, H.G.; Hambrick, G.W.; Barness, L.A.","year":"1962","unstructured":"Scheie, H. G., Hambrick, G. W., and Barness, L. A. (1962). A newly recognized forme fruste of Hurler's disease (gargoylism). American Journal of Ophthalmology, 53, 753-769.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_73","first-page":"488","article-title":"The ultrastructure of the skin in patients with mucopolysaccharidoses","volume":"31","author":"Spicer, S.S.; Garvin, A.J.; Wohltmann, H.J.; Simson, J.A.V.","year":"1974","unstructured":"Spicer, S. S., Garvin, A. J., Wohltmann, H. J., and Simson, J. A. V. (1974). The ultrastructure of the skin in patients with mucopolysaccharidoses. Laboratory Investigation, 31, 488-502.","journal-title":"Laboratory Investigation"},{"key":"ref_74","first-page":"113","article-title":"The genetic mucolipidoses. Diagnosis and differential diagnosis","volume":"9","author":"Spranger, J.W.; Wiedemann, H.R.","year":"1970","unstructured":"Spranger, J. W., and Wiedemann, H. R. (1970). The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik, 9, 113-139.","journal-title":"Humangenetik"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1001\/archneur.1976.00500120032005","article-title":"Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy","volume":"33","author":"Tellez-Nagel, I.; Rapin, I.; Iwamoto, T.; Johnson, A.B.; Norton, W.T.; Nitowsky, H.","year":"1976","unstructured":"Tellez-Nagel, I., Rapin, I., Iwamoto, T., Johnson, A. B., Norton, W. T., and Nitowsky, H. (1976). Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. Archives of Neurology (Chicago), 33, 828-835.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_76","first-page":"296","article-title":"Ultrastructure of metachromatic fibroblasts","volume":"124","author":"Tenconi, R.; Baccichetti, C.; Sartouri, E.","year":"1972","unstructured":"Tenconi, R., Baccichetti, C., and Sartouri, E. (1972). Ultrastructure of metachromatic fibroblasts. American Journal of Diseases of Children, 124, 296-297.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_77","first-page":"133","article-title":"La gangliosidose a GM1. Etude anatomoclinique de trois observations","volume":"16","author":"Tommasi, M.; Gylly, J.; Leung Tack Ki, A.","year":"1971","unstructured":"Tommasi, M., Gylly, J., and Leung Tack Ki, A. (1971). La gangliosidose a GM1. Etude anatomoclinique de trois observations. Annales d'Anatomie Pathologique (Paris), 16, 133-152.","journal-title":"Annales d'Anatomie Pathologique (Paris)"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S0022-3476(71)80143-9","article-title":"Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture","volume":"79","author":"Tondeur, M.; Vamos-Hurwitz, E.; Mockel-Pohl, S.Dereume; P., J.; Cremer, N.; Loeb, H.","year":"1971","unstructured":"Tondeur, M., Vamos-Hurwitz, E., Mockel-Pohl, S.. Dereume, J. P., Cremer, N., and Loeb, H. (1971). Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. Journal of Pediatrics, 79, 366-378.","journal-title":"Journal of Pediatrics"},{"key":"ref_79","article-title":"Mental retardation, hypotonia, and generalized seizures associated with astrocytic \"residual\" bodies, An ultrastructural study","volume-title":"Human Pathology, E","author":"Towfighi, J.; Grover, W.; Gonatas, N.K.","year":"1975","unstructured":"Towfighi, J., Grover, W., and Gonatas, N. K. (1975). Mental retardation, hypotonia, and generalized seizures associated with astrocytic \"residual\" bodies, An ultrastructural study. Human Pathology, E"},{"key":"ref_80","first-page":"169","article-title":"The electron microscopic study of the appendix as early diagnostic means in BattenSpielmeyer-Vogt disease. A cta Neuropathologica","volume":"21","author":"van Haelst, U.J.G.M.; Gabreels, F.J.M.","year":"1972","unstructured":"van Haelst, U. J. G. M., and Gabreels, F. J. M. (1972). The electron microscopic study of the appendix as early diagnostic means in BattenSpielmeyer-Vogt disease. A cta Neuropathologica (Berlin), 21, 169-175.","journal-title":"(Berlin)"},{"key":"ref_81","article-title":"Les inucopolysaccharidoses en tant que thesaurismoses lysosomiales. These d'agregation de l'enseignement superieur de l'Universit6 Catholique de Louvain","author":"Van Hoof, F.","year":"1972","unstructured":"Van Hoof, F. (1972). Les inucopolysaccharidoses en tant que thesaurismoses lysosomiales. These d'agregation de l'enseignement superieur de l'Universit6 Catholique de Louvain. Vander: Louvain."},{"key":"ref_82","first-page":"2535","article-title":"Mucopolysaccharidoses avec deficit en betagalactosidase. Etude ultrastructurale de la peau","volume":"79","author":"Vissian, L.; Vaillaud, J.C.; Duplay, H.","year":"1971","unstructured":"Vissian, L., Vaillaud, J. C., and Duplay, H. (1971). Mucopolysaccharidoses avec deficit en betagalactosidase. Etude ultrastructurale de la peau. La Presse Medicale, 79, 2535-2538.","journal-title":"La Presse Medicale"},{"key":"ref_83","article-title":"Interet de la biopsie cutanee dans les sphingolipidoses et les mucopolysaccharidoses de l'enfant. A propos d'un cas de maladie de Norman-Landing avec recherches enzymatiques et ultra-structurales. A nnales de Dermatologie et","author":"Vissian, L.; Kermarec, J.; J., Manassero; Duplay, H.; Vaillaud, J.C.","year":"1970","unstructured":"Vissian, L., Kermarec, J., Manassero. J., Duplay, H., and Vaillaud, J. C. (1970). Interet de la biopsie cutanee dans les sphingolipidoses et les mucopolysaccharidoses de l'enfant. A propos d'un cas de maladie de Norman-Landing avec recherches enzymatiques et ultra-structurales. A nnales de Dermatologie et de Syphiligraphie (Paris), 97, 2138."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1159\/000152849","article-title":"Utilization of electron microscopy in the prenatal diagnosis of genetic disease","volume":"27","author":"Wyatt, P.R.; Cox, D.M.","year":"1977","unstructured":"Wyatt, P. R., and Cox, D. M. (1977). Utilization of electron microscopy in the prenatal diagnosis of genetic disease. Human Heredity, 27, 22-37.","journal-title":"Human Heredity"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.41.3.232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,2]],"date-time":"2025-02-02T16:43:06Z","timestamp":1738514586000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.41.3.232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,3,1]]},"references-count":84,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1978,3,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.41.3.232","relation":{},"ISSN":["0022-3050"],"issn-type":[{"type":"print","value":"0022-3050"}],"subject":[],"published":{"date-parts":[[1978,3,1]]}}}