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References
Storage Diseases: General
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Hers HG, Van Hoof F: Lysosomes and Storage Diseases. Academic Press, New York, 1973.
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Kolodny EH, Boustany RM: Storage diseases of the reticuloendothelial system. In Nathan DG, Oski FA, eds, Nathan & Oski’s Hematology of Infancy and Childhood. WB Saunders, New York, 1987, pp 1212–1247.
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Tay-Sachs and Related Diseases
Adachi M, Schneck L, Volk BW: Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Lab Invest 30:102–112, 1974.
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Fabry’s Disease
deVeber GA, Schwarting GA, Kolodny EH, et al: Fabry disease: Immunocytochemical charcterization of neuronal involvement. Ann Neurol 31:409–415, 1992.
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Gaucher’s Disease
Adachi M, Volk BW: Gaucher disease in mice induced by conduritol-B-epoxide. Morphologic features. Arch Pathol Lab Med 101:255–259, 1977.
Brady RO, King FM: Gaucher’s disease. In Hers HG, Van Hoof F, eds: Lysosomes and Storage Diseases. Academic Press, New York, 1973, 381–394.
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Niemann-Pick Disease
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Vethamany VG, Welch JP, Vethamany SK: Type D Niemann-Pick disease (Nova Scotia variant). Ultrastructure of blood, skin fibroblasts, and bone marrow. Arch Pathol Lab Med 93:537–543, 1972.
Mucopolysaccharidosis
Aleu FP, Terry RD, Zellweger H: Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24:304–317, 1965.
Alroy JM, Jones MZ, Rutledge JC, et al: The ultrastructure of skin from a patient with mucopolysaccharidosis HID. Acta Neuropathol 93:210–213, 1997.
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Loeb H, Tondeur M, Toppet M, et al: Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis. Acta Pediatr Scand 58:220–228, 1969.
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Wallace BJ, Kaplan D, Adachi M, et al: Mucopolysaccharidosis type III. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome. Arch Pathol 82:462–473, 1966.
Lysosomal Storage Disease: Other
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Neuronal Ceroid-Lipofuscinoses
Dolman CL, McLeod PM, Chang EC: Lymphocytes and urine in ceroid lipofuscinosis. Arch Pathol Lab Med 104:487–490, 1980.
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Cholesterol Ester Storage Disease
Elleder M, Ledvinova J, Cieslar P, et al: Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process. Virchows Arch[A] 41:357–365, 1990.
Gasche C, Aslanids C, Kain R, et al: A novel variant of lysosomal acid lipase in cholesterol ester storage disease associated with mild phenotype and improvement on lovastatin. J Hepatol 27:744–750, 1997.
Cerebrotendinous Xanthomatosis
Arpa J, Sanchez C, Vega A, et al: Cerebrotendinous xanthomatosis diagnosed after traumatic subdural haematoma. Rev Neurol 23:675–678, 1995.
Berginer VM, Salen G, Shefer S: Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 26:1649–1652, 1984.
Bjorkham I, Skrede S: Familial diseases with storage of sterols other than cholesterol. In Scriver CR, Beaudet AL, Sly WS, et al, eds, The Metabolic Basis of Inherited Disease, 6th ed. McGraw-Hill, 1989, 1283–1293.
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Cruysberg JR, Wevers RA, van Engelen BG, et al: Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol 120:597–604, 1995.
Dotti MT, Manneschi L, Federico A: Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. J Neurol Sci 129:106–108, 1995.
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Kuramoto T, Suemura Y, Kihira K, et al: Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. Steroids 60:709–712, 1995.
Nagai Y, Hirano M, Mori T, et al: Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). Neurology 46:571–574, 1996.
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Soffer D, Benharroch D, Berginer V: The neuropathology of cerebrotendinous xanthomatosis revisited: A case report and review of the literature. Acta Neuropathol 90:213–220, 1995.
Mannosidosis
Dickersin GR, Lott IT, Kolodny EH, et al: A light and electron microscopic study of mannosidosis. Hum Pathol 11:245–256, 1980.
Ishigami T, Schmidt-Westhausen A, Philipsen HP, et al: Oral manifestations of alpha-mannosidosis: Report of a case with ultrastructural findings. J Oral Pathol Med 24:85–88, 1995.
Adrenoleukodystrophy
Black VH, Cornacchia L: Stereological analysis of peroxisomes and mitochondria in intestinal epithelium of patients with peroxisomal deficiency disorders: Zellweger’s syndrome and neonatal-onset adrenoleukodystrophy. Am J Anat 177:107–118, 1986.
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Hughes JL, Poulos A, Robertson E, et al: Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. Virchows Arch [A] 416:255–264, 1990.
Hughes JL, Crane DI, Robertson E, et al: Morphometry of peroxisomes and immunolocalization of peroxisomal proteins in the liver of patients with generalized peroxisomal disorders. Virchows Archiv [A] 423:459–468, 1993.
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Martin JJ, Ceuterick C, Martin L, et al: Skin and conjunctival biopsies in adrenoleukodystrophy. Acta Neuropathol 38:247–250, 1977.
Mito T, Takada K, Akaboshi S, et al: A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. Acta Neuropathol 77:437–440, 1989.
Molzer B, Gullotta F, Harzer K, et al: Unusual orthochromatic leukodystrophy with epithelial cells (Norman-Gullotta): An increase of very long chain fatty acids in brain discloses a peroxisomal disorder. Acta Neuropathol 86:187–189, 1993.
Powell H, Tindall R, Schultz P, et al: Adrenoleukodystrophy. Electron microscopic findings. Arch Neurol 32:250–260, 1975.
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Powers JM, Schaumburg HH: The adrenal cortex in adreno-leukodystrophy. Arch Pathol 96:305–310, 1973.
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Schaumburg HH, Powers JM, Raine CS, et al: Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32:577–591, 1975.
Takeda S, Ohama E, Ikuta F: Adrenoleukodystrophy—Early ultrastructural changes in the brain. Acta Neuropathol 78:124–130, 1989.
Tanaka K, Yamano T, Shimada M, et al: Electron microscopic study on biopsied rectal mucosa in adrenoleukodystrophy. Neurology 37:1012–1015, 1987.
Thomas PK, Landon DN, King RHM: Diseases of the peripheral nerves. In Graham DI, Lantos PL, eds, Greenfield’s Neuropathology, 6th ed, vol 2. Arnold, London, 1997, 367–487.
Wray SH, Cogan DG, Kuwabara T, et al: Adrenoleukodystrophy with disease of the eye and optic nerve. Am J Ophthalmol 82:480–485, 1976.
Glycogenosis Type II (and Nonlysosomal Glycogenoses)
Baudhuin P, Hers HG, Loeb H: An electron microscopic and biochemical study of type II glycogenosis. Lab Invest 13:1139–1152, 1964.
Griffin JL: Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers. Virchows Arch [B] 45:37–50, 1984.
Hug G, Schubert WK: Glycogenosis type II. Glycogen distribution in tissues. Arch Pathol Lab Med 84:141–152, 1967.
Hug G, Soukup S, Ryan M, et al: Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. N Engl J Med 310:1018–1022, 1984.
Kuzuya T, Matsuda A, Yoshida S, et al: An adult case of type lb glycogen-storage disease. Enzymatic and histochemical studies. N Engl J Med 308:566–569, 1983.
McAdams AJ, Hug G, Bove KE: Glycogen storage disease, types I to X. Criteria for morphologic diagnosis. Hum Pathol 5:463–487, 1974.
Ullrich K, Grobe H, Korinthenberg R, et al: Severe course of glycogen storage disease type II (Pompe disease) without development of cardiomegalia. Pathol Res Pract 181:627–632, 1986.
Erdheim-Chester Disease (Fibroxanthomatosis)
Devouassoux G, Lantuejoul S, Chatelain P, et al: Erdheim-Chester disease: A primary macrophage cell disorder. Am J Respir Crit Care Med 157:650–653, 1998.
Fink MG, Levinson DJ, Brown NL, et al: Erdheim-Chester disease. Case report with autopsy findings. Arch Pathol Lab Med 115:619–623, 1991.
Ono K, Oshiro M, Uemura K, et al: Erdheim-Chester disease: A case report with immunohistochemical and biochemical examination. Hum Pathol 27:91–95, 1996.
Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al: Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine 75:157–169, 1996.
Porphyria
Bloomer JR, Enriquez R: Evidence that hepatic crystalline deposits in a patient with protoporphyria are composed of protoporphyrin. Gastroenterology 82:569–573, 1982.
Bruguera M, Esquerda JE, Mascaro JM, et al: Erythropoietic protoporphyria. A light, electron, and polarization microscopical study of the liver in three patients. Arch Pathol Lab Med 100:587–589, 1976.
Fonia O, Weizman R, Coleman R, et al: PK 11195 aggravates 3,5-diethoxycarbonyl-l,4-digydrocollidine-induced hepatic porphyria in rats. Hepatology 24:697–701, 1996.
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Nakanuma Y, Wada M, Kono N, et al: An autopsy case of erythropoietic protoporphyria with cholestatic jaundice and hepatic failure, and a review of literature. Virchows Arch [A] 393:123–132, 1982.
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Shapiro SH, Wessely Z, Klavins JV: Hepatocyte mitochondrial alterations in griseofulvin fed mice. Ann Clin Lab Sci 10:33–45, 1980.
Alpha-1-Antitrypsin Deficiency
Bhan AK, Grand RJ, Colten HR, et al: Liver in alpha-1-antitrypsin deficiency: Morphologic observations and in vitro synthesis of alpha-1-antitrypsin. Pediatr Res 10:35–40, 1976.
Campra JL, Craig JR, Peters RL, et al: Cirrhosis associated with partial deficiency of alpha-1-antitrypsin in an adult. Ann Intern Med 78:233–238, 1973.
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Feldman G, Bignon J, Chahinian P, et al: Hepatocyte ultrastructural changes in alpha-1-antitrypsin deficiency. Gastroenterology 67:1214–1224, 1974.
Fukuda Y, Masuda Y, Ishizaki M, et al: Morphogenesis of abnormal elastic fibers in lungs of patients with panacinar and centriacinar emphysema. Hum Pathol 20:652–659, 1989.
Gordon HW, Dixon J, Rogers JC, et al: Alpha-1-antitrypsin (A1-AT) accumulation in livers of emphysematous patients with A1-AT deficiency. Hum Pathol 3:361–370, 1972.
Gourley MF, Gourley GR, Gilbert EF, et al: Alpha 1-antitrypsin deficiency and the PiMS phenotype: Case report and literature review. J Pediatr Gastroenterol Nutr 8:116–121, 1989.
Hultcrantz R, Mengarelli S: Ultrastructural liver pathology in patients with minimal liver disease and alpha 1-antitrypsin deficiency: A comparison between heterozygous and homozygous patients. Hepatology 4:937–945, 1984.
Hultcrantz R, Jelf E, Nilsson LH: Minimal liver disease in young persons with homozygous and heterozygous alpha-1-antitrypsin deficiency. Scand J Gastroenterol 19:389–393, 1984.
Ishak KG, Jenis EH, Marshall ML, et al: Cirrhosis of the liver associated with alpha-1-antitrypsin deficiency. Arch Pathol Lab Med 94:445–455, 1972.
Lieberman J, Mittman C, Gordon HW: Alpha-1-antitrypsin in the liver of patients with emphysema. Science 175:63–65, 1972.
Lomas DA, Evans DL, Finch JT, et al: The mechanism of Z alpha-1-antitrypsin accumulation in the liver. Nature 357:605–607, 1992.
Martorana PA, Brand T, Gardi C, et al: The pallid mouse. A model of genetic alpha-1-antitrypsin deficiency. Lab Invest 68:233–241, 1993.
Nemeth A, Strandvik B, Glaumann H: Alpha-1-antitrypsin deficiency and juvenile liver disease. Ultrastructural observations compared with light microscopy and routine liver tests. Virchows Arch [B] 44:15–33, 1983.
Scotto JM, Stralin HG, Alagille D: Alpha-1-antitrypsin deficiency in children: Liver ultrastructure and speculations. Virchows Arch [A] 369:19–27, 1975.
Sharp HL: Alpha-1-antitrypsin deficiency. Hosp Pract 6:83–96, 1971.
Yunis EJ, Agostini RM, Glew RH: Fine structural observations of the liver in alpha-1-antitrypsin deficiency. Am J Pathol 82:265–285, 1976.
Pulmonary Alveolar Proteinosis
Bedrossian CWM, Luna MA, Conklin RH, et al: Alveolar proteinosis as a consequence of immunosuppression. Hum Pathol 11:527–535, 1980.
Burkhalter A, Silverman JF, Hopkins MB III, et al: Bronchoalveolar lavage cytology in pulmonary alveolar proteinosis. Am J Clin Pathol 106:504–510, 1996.
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Costello JF, Moriarty DC, Branthwaite MA, et al: Diagnosis and management of alveolar proteinosis: The role of electron microscopy. Thorax 30:121–132, 1975.
Gilmore LB, Talley FA, Hook GE: Classification and morphometric quantitation of insoluble materials from the lungs of patients with alveolar proteinosis. Am J Pathol 133:252–264, 1988.
Hattori A, Kuroki Y, Katoh T, et al: Surfactant protein A accumulating in the alveoli of patients with pulmonary alveolar proteinosis: Oligomeric structure and interaction with lipids. Am J Respir Cell Molec Biol 14:608–619, 1996.
Hook GER, Bell DY, Gilmore LB, et al: Composition of bronchoalveolar lavage effluents from patients with pulmonary alveolar proteinosis. Lab Invest 39:342–357, 1978.
Hook GER, Gilmore LB, Talley FA: Dissolution and reassembly of tubular myelin-like multilamellated structures from the lungs of patients with pulmonary alveolar proteinosis. Lab Invest 55:194–208, 1986.
Hook GER, Gilmore LB, Talley FA: Multilamellated structures from the lungs of patients with pulmonary alveolar proteinosis. Lab Invest 50:711–725, 1984.
Knight DP, Knight JA: Pulmonary alveolar proteinosis in the newborn. Arch Pathol Lab Med 109:529–531, 1985.
Kuhn C, Gyorkey F, Levine BE, et al: Pulmonary alveolar proteinosis: A study using enzyme histochemistry, electron microscopy and surface-tension measurement. Lab Invest 15:492–509, 1966.
Mikami T, Yamamoto Y, Yokoyama M, et al: Pulmonary alveolar proteinosis: Diagnosis using routinely processed smears of bronchoalveolar lavage fluid. J Clin Pathol 50:981–984, 1997.
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Takemura T, Fukuda Y, Harrison M, et al: Ultrastructural, histochemical, and freeze-fracture evaluation of multilamellated structures in human pulmonary alveolar proteinosis. Am J Anat 179:258–268, 1987.
Mitochondrial Abnormalities
Adachi K, Matsuhashi T, Nishizawa Y, et al: Suppression of the hydrazine-induced formation of megamitochondria in the rat liver by coenzyme Q10. Toxicol Pathol 23:667–676, 1995.
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Hayasaka K, Takahashi I, Kobayashi Y, et al: Effects of valproate on biogenesis and function of liver mitochondria. Neurology 36:351–356, 1986.
Kimura A, Yoshida I, Yamashita F, et al: The occurrence of intramitochondrial Ca2+ granules in valproate-induced liver injury. J Pediatr Gastroenterol Nutr 8:13–18, 1989.
Koch OR, Bedetti CD, Gamboni M, et al: Functional alterations of liver mitochondria in chronic experimental alcoholism. Exp Mol Pathol 25:253–262, 1976.
Amyloidosis
Bladen HA, Nylen MU, Glenner GG: The ultrastructure of human amyloid as revealed by the negative staining technique. J Ultrastruct Res 14:449–459, 1966.
Bourgeois N, Buyssens N, Goovaerts G: Ultrastructural appearance of amyloid. Ultrastruct Pathol 11:67–76, 1987.
Cohen AS: Amyloidosis. N Engl J Med 277:522–530; 574–583; 628–638, 1967.
Durie BGM, Persky B, Soehnlen BJ, et al: Amyloid production in human myeloma stem-cell culture, with morphologic evidence of amyloid secretion by associated macrophages. N Engl J Med 307:1689–1692, 1982.
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Glenner GG: Amyloid deposits and amyloidosis. The β-fibrilloses, part II. N Engl J Med 302:1333–1343, 1980.
Kisilevsky R, Axelrad M, Corbett W, et al: The role of inflammatory cells in the pathogenesis of amyloidosis. Lab Invest 37:544–553, 1977.
Linke RP, Nathrath WBJ, Wilson PD: Immuno-electron microscopic identification and classification of amyloid in tissue sections by the post-embedding protein-A gold method. Ultrastruct Pathol 4:1–7, 1983.
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Shirahama T, Cohen AS: An analysis of the close relationship of lysosomes to early deposits of amyloid. Ultrastructural evidence in experimental mouse amyloidosis. Am J Pathol 73:97–114, 1973.
Shirahama T, Cohen AS: High-resolution electron microscopic analysis of the amyloid fibril. J Cell Biol 33:679–708, 1967.
Tischler AS, Compagno J: Crystal-like deposits of amyloid in pancreatic islet cell tumors. Arch Pathol Lab Med 103:247–251, 1979.
Yano BL, Hayden DW, Johnson KH: Feline insular amyloid. Ultrastructural evidence for intracellular formation by non-endocrine cells. Lab Invest 45:149–156, 1981.
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Mitochondrial Abnormalities: General
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(2000). Genetic and Metabolic Diseases. In: Dickersin, G.R. (eds) Diagnostic Electron Microscopy. Springer, New York, NY. https://doi.org/10.1007/0-387-21852-1_11
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