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Journal of Clinical Pathology. Supplement (Royal College of Pathologists) logoLink to Journal of Clinical Pathology. Supplement (Royal College of Pathologists)
. 1974;8:64–93.

Mucopolysaccharidoses and mucolipidoses

F Van Hoof 1,2
PMCID: PMC1347205  PMID: 4220223

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Selected References

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  1. ALEU F. P., TERRY R. D., ZELLWEGER H. ELECTRON MICROSCOPY OF TWO CEREBRAL BIOPSIES IN GARGOYLISM. J Neuropathol Exp Neurol. 1965 Apr;24:304–317. doi: 10.1097/00005072-196504000-00010. [DOI] [PubMed] [Google Scholar]
  2. Austin J. H. Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. Arch Neurol. 1973 Apr;28(4):258–264. doi: 10.1001/archneur.1973.00490220066010. [DOI] [PubMed] [Google Scholar]
  3. BRANTE G. Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest. 1952;4(1):43–46. doi: 10.3109/00365515209060631. [DOI] [PubMed] [Google Scholar]
  4. Bach G., Eisenberg F., Jr, Cantz M., Neufeld E. F. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134–2138. doi: 10.1073/pnas.70.7.2134. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bach G., Friedman R., Weissmann B., Neufeld E. F. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048–2051. doi: 10.1073/pnas.69.8.2048. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Baker H. J., Jr, Lindsey J. R., McKhann G. M., Farrell D. F. Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science. 1971 Nov 19;174(4011):838–839. doi: 10.1126/science.174.4011.838. [DOI] [PubMed] [Google Scholar]
  7. Barrett A. J. Chondromucoprotein-degrading enzymes. Nature. 1966 Sep 10;211(5054):1188–1189. doi: 10.1038/2111188a0. [DOI] [PubMed] [Google Scholar]
  8. Booth C. W., Nadler H. L. Plasma infusions in an infant with Hurler's syndrome. J Pediatr. 1973 Feb;82(2):273–278. doi: 10.1016/s0022-3476(73)80166-0. [DOI] [PubMed] [Google Scholar]
  9. Borri P. F., Hooghwinkel G. J., Edgar G. W. Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism. J Neurochem. 1966 Nov;13(11):1249–1256. doi: 10.1111/j.1471-4159.1966.tb04284.x. [DOI] [PubMed] [Google Scholar]
  10. Borrone C., Gatti R., Trias X., Durand P. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases. J Pediatr. 1974 May;84(5):727–730. doi: 10.1016/s0022-3476(74)80019-3. [DOI] [PubMed] [Google Scholar]
  11. Bowers W. E., de Duve C. Lysosomes in lymphoid tissue. II. Intracellular distribution of acid hydrolases. J Cell Biol. 1967 Feb;32(2):339–348. doi: 10.1083/jcb.32.2.339. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Brown S. I., Kuwabara T. Peripheral corneal opacification and skeletal deformities. A newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis. Arch Ophthalmol. 1970 Jun;83(6):667–677. doi: 10.1001/archopht.1970.00990030667001. [DOI] [PubMed] [Google Scholar]
  13. CONCHIE J., HAY A. J. Mammalian glycosidases. 4. The intracellular localization of beta-galactosidase, alpha-mannosidase, beta-N-acetylglucosaminidase and alpha-L-fucosidase in mammalian tissues. Biochem J. 1963 May;87:354–361. doi: 10.1042/bj0870354. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Campailla E., Martinelli B. Osteocondrodistrofia dell'accrescimento con mucoplisaccariduria. (Nota preventiva) Boll Soc Ital Biol Sper. 1969 Sep 15;45(17):1145–1146. [PubMed] [Google Scholar]
  15. Carroll M., Dance N., Masson P. K., Robinson D., Winchester B. G. Human mannosidosis--the enzyme defect. Biochem Biophys Res Commun. 1972 Oct 17;49(2):579–583. doi: 10.1016/0006-291x(72)90450-0. [DOI] [PubMed] [Google Scholar]
  16. Clausen J., Dyggve H. V., Melchior J. C., Lou H. O. Chemical studies in gargoylism. Arch Dis Child. 1967 Feb;42(221):62–69. doi: 10.1136/adc.42.221.62. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Crocker A. C. Plasma infusion therapy for Hurler's syndrome. Pediatrics. 1972 Nov;50(5):683–685. [PubMed] [Google Scholar]
  18. DE DUVE C., PRESSMAN B. C., GIANETTO R., WATTIAUX R., APPELMANS F. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem J. 1955 Aug;60(4):604–617. doi: 10.1042/bj0600604. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Danes B. S., Bearn A. G. Hurler's syndrome. A genetic study in cell culture. J Exp Med. 1966 Jan 1;123(1):1–16. doi: 10.1084/jem.123.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Danes B. S., Degnan M., Salk L., Flynn F. J. Treatment of Hurler syndrome. Lancet. 1972 Oct 21;2(7782):883–883. doi: 10.1016/s0140-6736(72)92257-x. [DOI] [PubMed] [Google Scholar]
  21. Dawson G., Matalon R., Dorfman A. Glycosphingolipids in cultured human skin fibroblasts. II. Characterization and metabolism in fibroblasts from patients with inborn errors of glycosphingolipid and mucopolysaccharide metabolism. J Biol Chem. 1972 Sep 25;247(18):5951–5958. [PubMed] [Google Scholar]
  22. Dawson G., Spranger J. W. Fucosidosis: a glycosphingolipidosis. N Engl J Med. 1971 Jul 8;285(2):122–122. doi: 10.1056/NEJM197107082850219. [DOI] [PubMed] [Google Scholar]
  23. De Duve C., Wattiaux R. Functions of lysosomes. Annu Rev Physiol. 1966;28:435–492. doi: 10.1146/annurev.ph.28.030166.002251. [DOI] [PubMed] [Google Scholar]
  24. Dean M. F., Muir H., Benson P. F. Mobilization of glycosaminoglycans by plasma infusion in mucopolysaccharidosis type 3--two types of response. Nat New Biol. 1973 May 30;243(126):143–146. doi: 10.1038/newbio243143a0. [DOI] [PubMed] [Google Scholar]
  25. Dekaban A. S., Holden K. R., Constantopoulos G. Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis. Pediatrics. 1972 Nov;50(5):688–692. [PubMed] [Google Scholar]
  26. Derry D. M., Fawcett J. S., Andermann F., Wolfe L. S. Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types. Neurology. 1968 Apr;18(4):340–348. doi: 10.1212/wnl.18.4.340. [DOI] [PubMed] [Google Scholar]
  27. Di Ferrante N., Nichols B. L., Donnelly P. V., Neri G., Hrgovcic R., Berglund R. K. Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci U S A. 1971 Feb;68(2):303–307. doi: 10.1073/pnas.68.2.303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Diebold J., Bernadou A., Kalifat R., Ganter P., Reynès M. Lipidose splénique. Avec histiocytes "bleu marine" par accumulation de céroïdes. Nouv Presse Med. 1972 Aug 26;1(30):1983–1988. [PubMed] [Google Scholar]
  29. Dorfman A., Lorincz A. E. OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME. Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443–446. doi: 10.1073/pnas.43.6.443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Durand P., Borrone C., Della Cella G. Fucosidosis. J Pediatr. 1969 Oct;75(4):665–674. doi: 10.1016/s0022-3476(69)80464-6. [DOI] [PubMed] [Google Scholar]
  31. Durand P., Philippart M., Borrone C., Della Cella G., Bugiani O. Una nuova malattia da accumulo di glicolipidi. (Ceramidi tetraesosidi) Minerva Pediatr. 1967 Dec 8;19(49):2187–2196. [PubMed] [Google Scholar]
  32. Epinette W. W., Norins A. L., Drew A. L., Zeman W., Patel V. Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. Arch Dermatol. 1973 May;107(5):754–757. [PubMed] [Google Scholar]
  33. Erickson R. P., Sandman R., Robertson W. van B., Epstein C. J. Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II. Pediatrics. 1972 Nov;50(5):693–701. [PubMed] [Google Scholar]
  34. FELL H. B., DINGLE J. T. Studies on the mode of action of excess of vitamin A. 6. Lysosomal protease and the degradation of cartilage matrix. Biochem J. 1963 May;87:403–408. doi: 10.1042/bj0870403. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968 Nov 1;162(3853):570–572. doi: 10.1126/science.162.3853.570. [DOI] [PubMed] [Google Scholar]
  36. Fratantoni J. C., Hall C. W., Neufeld E. F. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A. 1968 Jun;60(2):699–706. doi: 10.1073/pnas.60.2.699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Fratantoni J. C., Neufeld E. F., Uhlendorf B. W., Jacobson C. B. Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med. 1969 Mar 27;280(13):686–688. doi: 10.1056/NEJM196903272801303. [DOI] [PubMed] [Google Scholar]
  38. Freitag F., Blümcke S., Spranger J. Hepatic ultrastructure in mucolipidosis I (lipomucopolysaccharidosis). Virchows Arch B Cell Pathol. 1971;7(2):189–204. doi: 10.1007/BF02892091. [DOI] [PubMed] [Google Scholar]
  39. Freitag F., Küchemann K., Blümcke S. Hepatic ultrastructure in fucosidosis. Virchows Arch B Cell Pathol. 1971;7(2):99–113. doi: 10.1007/BF02892083. [DOI] [PubMed] [Google Scholar]
  40. Freitag F., Küchemann K., Schuster W., Spranger J. Hepatic ultrastructure in chondroitin-4-sulfate mucopolysaccharidosis. Virchows Arch B Cell Pathol. 1971;8(1):1–15. doi: 10.1007/BF02893509. [DOI] [PubMed] [Google Scholar]
  41. GONATAS N. K., GONATAS J. ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM. J Neuropathol Exp Neurol. 1965 Apr;24:318–340. doi: 10.1097/00005072-196504000-00011. [DOI] [PubMed] [Google Scholar]
  42. Gatti R., Borrone C., Trias X., Durand P. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Nov 3;302(7836):1024–1024. doi: 10.1016/s0140-6736(73)91112-4. [DOI] [PubMed] [Google Scholar]
  43. Gilbert E. F., Dawson G., zu Rhein G. M., Opitz J. M., Spranger I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd. 1973;114(4):259–292. [PubMed] [Google Scholar]
  44. Ginsel L. A., Daems W. T., Emeis J. J., Vio P. M., van Gemund J. J. Fine structure and silver-staining patterns of lysosome-like bodies in absorptive cells of the small intestine in normal children and children with a lysosomal storage disease. Virchows Arch B Cell Pathol. 1973 Jun 25;13(2):119–144. doi: 10.1007/BF02889303. [DOI] [PubMed] [Google Scholar]
  45. Gollance R. B., D'Amico R. A. Atypical mucopolysaccharidosis and successful keratoplasty. Am J Ophthalmol. 1967 Oct;64(4):707–716. doi: 10.1016/0002-9394(67)92852-8. [DOI] [PubMed] [Google Scholar]
  46. HERS H. G. INBORN LYSOSOMAL DISEASES. Gastroenterology. 1965 May;48:625–633. [PubMed] [Google Scholar]
  47. HIENZ H. A. [Pfaundler-Hurler disease]. Ergeb Allg Pathol Pathol Anat. 1960;40:1–33. [PubMed] [Google Scholar]
  48. Hall C. W., Cantz M., Neufeld E. F. A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys. 1973 Mar;155(1):32–38. doi: 10.1016/s0003-9861(73)80006-2. [DOI] [PubMed] [Google Scholar]
  49. Hanai J., Leroy J., O'Brien J. S. Ultrastructure of cultured fibroblasts in I-cell disease. Am J Dis Child. 1971 Jul;122(1):34–38. doi: 10.1001/archpedi.1971.02110010070011. [DOI] [PubMed] [Google Scholar]
  50. Handa S., Yamakawa T. Biochemical studies in cat and human gangliosidosis. J Neurochem. 1971 Jul;18(7):1275–1280. doi: 10.1111/j.1471-4159.1971.tb00226.x. [DOI] [PubMed] [Google Scholar]
  51. Hers H. G., Van Hoof F. The genetic pathology of lysosomes. Prog Liver Dis. 1970;3:185–205. [PubMed] [Google Scholar]
  52. Hickman S., Neufeld E. F. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun. 1972 Nov 15;49(4):992–999. doi: 10.1016/0006-291x(72)90310-5. [DOI] [PubMed] [Google Scholar]
  53. Ho M. W., O'Brien J. S. Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme. Science. 1969 Aug 8;165(3893):611–613. doi: 10.1126/science.165.3893.611. [DOI] [PubMed] [Google Scholar]
  54. Hocking J. D., Jolly R. D., Batt R. D. Deficiency of alpha-mannosidase in Angus cattle. An inherited lysosomal storage disease. Biochem J. 1972 Jun;128(1):69–78. doi: 10.1042/bj1280069. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Hof L., Matalon R., Dorfman A. Gangliosides in human skin fibroblasts and their enrichment in the "Hurler variant" and Krabbe's disease. Hoppe Seylers Z Physiol Chem. 1971 Oct;352(10):1329–1337. doi: 10.1515/bchm2.1971.352.2.1329. [DOI] [PubMed] [Google Scholar]
  56. Hunter C. A Rare Disease in Two Brothers. Proc R Soc Med. 1917;10(SECT):104–116. [PMC free article] [PubMed] [Google Scholar]
  57. Jolly R. D., Blakemore W. F. Inherited lysosomal storage diseases: an essay in comparative medicine. Vet Rec. 1973 Apr 14;92(15):391–400. doi: 10.1136/vr.92.15.391. [DOI] [PubMed] [Google Scholar]
  58. Jolly R. D. Diagnosis and control of pseudolipidosis of angus calves. N Z Vet J. 1970 Oct;18(10):228–229. doi: 10.1080/00480169.1970.33909. [DOI] [PubMed] [Google Scholar]
  59. Jolly R. D. The pathology of the central nervous system in pseudolipidosis of Angus calves. J Pathol. 1971 Feb;103(2):113–121. doi: 10.1002/path.1711030206. [DOI] [PubMed] [Google Scholar]
  60. Kaback M. M., Sloan H. R., Sonneborn M., Herndon R. M., Percy A. K. Gm-gangliosidosis type I: in utero detection and fetal manifestations. J Pediatr. 1973 Jun;82(6):1037–1041. doi: 10.1016/s0022-3476(73)80438-x. [DOI] [PubMed] [Google Scholar]
  61. Kaplan D., McKusick V., Trebach S., Lazarus R. Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). J Lab Clin Med. 1968 Jan;71(1):48–55. [PubMed] [Google Scholar]
  62. Kenyon K. R., Topping T. M., Green W. R., Maumenee A. E. Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Histologic and ultrastructural report of two cases. Am J Ophthalmol. 1972 May;73(5):718–741. doi: 10.1016/0002-9394(72)90390-x. [DOI] [PubMed] [Google Scholar]
  63. Kint J. A., Dacremont G., Carton D., Hooft C., Loeb H. Abnormal distribution patterns of lysosomal isoenzymes in mucopolysaccharidosis. N Engl J Med. 1971 Dec 30;285(27):1537–1538. doi: 10.1056/NEJM197112302852715. [DOI] [PubMed] [Google Scholar]
  64. Kint J. A., Dacremont G., Carton D., Orye E., Hooft C. Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes. Science. 1973 Jul 27;181(4097):352–354. doi: 10.1126/science.181.4097.352. [DOI] [PubMed] [Google Scholar]
  65. Knudson A. G., Jr, Di Ferrante N., Curtis J. E. Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis. Proc Natl Acad Sci U S A. 1971 Aug;68(8):1738–1741. doi: 10.1073/pnas.68.8.1738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  66. Kousseff B. G., Beratis N. G., Danesino C., Hirschhorn K. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Dec 15;2(7842):1387–1388. doi: 10.1016/s0140-6736(73)93352-7. [DOI] [PubMed] [Google Scholar]
  67. Kresse H. Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. Biochem Biophys Res Commun. 1973 Oct 1;54(3):1111–1118. doi: 10.1016/0006-291x(73)90807-3. [DOI] [PubMed] [Google Scholar]
  68. Kresse H., Neufeld E. F. The Sanfilippo A corrective factor. Purification and mode of action. J Biol Chem. 1972 Apr 10;247(7):2164–2170. [PubMed] [Google Scholar]
  69. Kresse H., Wiesmann U., Cantz M., Hall C. W., Neufeld E. F. Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun. 1971 Mar 5;42(5):892–898. doi: 10.1016/0006-291x(71)90514-6. [DOI] [PubMed] [Google Scholar]
  70. LANDING B. H., SILVERMAN F. N., CRAIG J. M., JACOBY M. D., LAHEY M. E., CHADWICK D. L. FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT". Am J Dis Child. 1964 Nov;108:503–522. [PubMed] [Google Scholar]
  71. LEDEEN R., SALSMAN K., GONATAS J., TAGHAVY A. STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I. J Neuropathol Exp Neurol. 1965 Apr;24:341–351. doi: 10.1097/00005072-196504000-00012. [DOI] [PubMed] [Google Scholar]
  72. Lagunoff D., Nicol D. M., Pritzi P. Uptake of beta-glucuronidase by deficient human fibroblasts. Lab Invest. 1973 Oct;29(4):449–453. [PubMed] [Google Scholar]
  73. Ledeen R. The chemistry of gangliosides: a review. J Am Oil Chem Soc. 1966 Feb;43(2):57–66. doi: 10.1007/BF02641015. [DOI] [PubMed] [Google Scholar]
  74. Leroy J. G., Crocker A. C. Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients. Am J Dis Child. 1966 Dec;112(6):518–530. doi: 10.1001/archpedi.1966.02090150062003. [DOI] [PubMed] [Google Scholar]
  75. Leroy J. G., Demars R. I. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science. 1967 Aug 18;157(3790):804–806. doi: 10.1126/science.157.3790.804. [DOI] [PubMed] [Google Scholar]
  76. Leroy J. G., Ho M. W., MacBrinn M. C., Zielke K., Jacob J., O'Brien J. S. I-cell disease: biochemical studies. Pediatr Res. 1972 Oct;6(10):752–757. doi: 10.1203/00006450-197210000-00002. [DOI] [PubMed] [Google Scholar]
  77. Leroy J. G., Spranger J. W., Feingold M., Opitz J. M., Crocker A. C. I-cell disease: a clinical picture. J Pediatr. 1971 Sep;79(3):360–365. doi: 10.1016/s0022-3476(71)80142-7. [DOI] [PubMed] [Google Scholar]
  78. Leroy J. G., Spranger J. W. I-cell disease. N Engl J Med. 1970 Sep 10;283(11):598–599. [PubMed] [Google Scholar]
  79. Leroy J. G., Van Elsen A. F. I-cell disease (mucolipidosis type II). Serum hydrolases in obligate heterozygotes. Humangenetik. 1973;20(2):119–123. doi: 10.1007/BF00284846. [DOI] [PubMed] [Google Scholar]
  80. Lie S. O., McKusick V. A., Neufeld E. F. Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium. Proc Natl Acad Sci U S A. 1972 Sep;69(9):2361–2363. doi: 10.1073/pnas.69.9.2361. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. Lie S. O., Schofield B. H., Taylor H. A., Jr, Doty S. B. Structure and function of the lysosomes of human fibroblasts in culture: dependence on medium pH. Pediatr Res. 1973 Jan;7(1):13–19. doi: 10.1203/00006450-197301000-00003. [DOI] [PubMed] [Google Scholar]
  82. Lie S. O., Schofield B. Inactivation of lysosomal function in normal cultured human fibroblasts by chloroquine. Biochem Pharmacol. 1973 Dec 1;22(23):3109–3114. doi: 10.1016/0006-2952(73)90197-4. [DOI] [PubMed] [Google Scholar]
  83. Lightbody J., Wiesmann U., Hadorn B., Herschkowitz N. I-cell disease: multiple lysosomal-enzyme defect. Lancet. 1971 Feb 27;1(7696):451–451. doi: 10.1016/s0140-6736(71)92435-4. [DOI] [PubMed] [Google Scholar]
  84. Lindahl U., Axelsson O. Identification of iduronic acid as the major sulfated uronic acid of heparin. J Biol Chem. 1971 Jan 10;246(1):74–82. [PubMed] [Google Scholar]
  85. Linker A., Evans L. R., Langer L. O. Morquio's disease and mucopolysaccharide excretion. J Pediatr. 1970 Dec;77(6):1039–1047. doi: 10.1016/s0022-3476(70)80089-0. [DOI] [PubMed] [Google Scholar]
  86. Loeb H., Tondeur M., Jonniaux G., Mockel-Pohl S., Vamos-Hurwitz E. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). Helv Paediatr Acta. 1969 Oct;24(5):519–537. [PubMed] [Google Scholar]
  87. Lowden J. A., Cutz E., Conen P. E., Rudd N., Doran T. A. Prenatal diagnosis of G M1 -gangliosidosis. N Engl J Med. 1973 Feb 1;288(5):225–228. doi: 10.1056/NEJM197302012880502. [DOI] [PubMed] [Google Scholar]
  88. Lyon G., Hors-Cayla M. C., Jonsson V., Maroteaux P. Aspects ultrastructuraux et signification biochimique des granulations métachromatiques et autres inclusions dans les fibroblastes en culture provenant de lipidoses et de mucopolysaccharidoses. J Neurol Sci. 1973 Jun;19(2):235–253. doi: 10.1016/0022-510x(73)90165-2. [DOI] [PubMed] [Google Scholar]
  89. MAROTEAUX P., LEVEQUE B., MARIE J., LAMY M. UNE NOUVELLE DYSOSTOSE AVEC 'ELIMINATION URINAIRE DE CHONDROITINE-SULFATE B. Presse Med. 1963 Sep 25;71:1849–1852. [PubMed] [Google Scholar]
  90. MEYER K., GRUMBACH M. M., LINKER A., HOFFMAN P. Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome). Proc Soc Exp Biol Med. 1958 Feb;97(2):275–279. doi: 10.3181/00379727-97-23714. [DOI] [PubMed] [Google Scholar]
  91. MacBrinn M. C., Okada S., Ho M. W., Hu C. C., O'Brien J. S. Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien. Science. 1969 Feb 28;163(3870):946–947. doi: 10.1126/science.163.3870.946. [DOI] [PubMed] [Google Scholar]
  92. Malmström A., Fransson L. A. Structure of pig skin dermatan sulfate. 2. Demonstration of sulfated iduronic acid residues. Eur J Biochem. 1971 Feb 1;18(3):431–435. doi: 10.1111/j.1432-1033.1971.tb01260.x. [DOI] [PubMed] [Google Scholar]
  93. Marchal C., Grignon G., Humbel R., Vidailhet M., Fall M., Grignon M., Pierson M., Neimann N. Mucopolysaccharidose sans mucopolysaccharidurie. Ann Pediatr (Paris) 1968 Oct 2;15(10):606–611. [PubMed] [Google Scholar]
  94. Maroteaux P. Différenciation biochimique des maladies de Hurler et de Hunter par fractionnement de l'héparitine sulfate. Rev Eur Etud Clin Biol. 1970 Feb;15(2):203–205. [PubMed] [Google Scholar]
  95. Maroteaux P., Hors-Cayla M. C., Pont J. La mucolipidose de type II. Presse Med. 1970 Jan 24;78(4):179–181. [PubMed] [Google Scholar]
  96. Maroteaux P., Lamy M. La pseudo-polydystrophie de Hurler. Presse Med. 1966 Dec 25;74(55):2889–2892. [PubMed] [Google Scholar]
  97. Maroteaux P. Un nouveau type de mucopolysaccharidose avec athétose et élimination urinaire de kératan-sulfate. Nouv Presse Med. 1973 Apr 14;2(15):975–979. [PubMed] [Google Scholar]
  98. Matalon R., Cifonelli J. A., Dorfman A. L-iduronidase in cultured human fibroblasts and liver. Biochem Biophys Res Commun. 1971 Jan 22;42(2):340–345. doi: 10.1016/0006-291x(71)90108-2. [DOI] [PubMed] [Google Scholar]
  99. Matalon R., Cifonelli J. A., Zellweger H., Dormanfman A. Lipid abnormalities in a variant of the Hurler syndrome. Proc Natl Acad Sci U S A. 1968 Apr;59(4):1097–1102. doi: 10.1073/pnas.59.4.1097. [DOI] [PMC free article] [PubMed] [Google Scholar]
  100. Matalon R., Dorfman A. Hurler's syndrome, an -L-iduronidase deficiency. Biochem Biophys Res Commun. 1972 May 26;47(4):959–964. doi: 10.1016/0006-291x(72)90586-4. [DOI] [PubMed] [Google Scholar]
  101. Matalon R., Dorfman A. Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture. Proc Natl Acad Sci U S A. 1966 Oct;56(4):1310–1316. doi: 10.1073/pnas.56.4.1310. [DOI] [PMC free article] [PubMed] [Google Scholar]
  102. Matalon R., Dorfman A., Nadler H. L. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1972 Apr 8;1(7754):798–799. doi: 10.1016/s0140-6736(72)90558-2. [DOI] [PubMed] [Google Scholar]
  103. Matalon R., Dorfman A., Nadler H. L., Jacobson C. B. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1970 Jan 10;1(7637):83–84. doi: 10.1016/s0140-6736(70)91869-6. [DOI] [PubMed] [Google Scholar]
  104. Matsuda I., Arashima S., Anakura M., Ege A., Hayata I. Fucosidosis. Tohoku J Exp Med. 1973 Jan;109(1):41–48. doi: 10.1620/tjem.109.41. [DOI] [PubMed] [Google Scholar]
  105. Maynard J. A., Cooper R. R., Ponseti I. V. Morquio's disease (mucopolysaccharidosis type IV). Ultrastructure of epiphyseal plates. Lab Invest. 1973 Feb;28(2):194–205. [PubMed] [Google Scholar]
  106. McKusick V. A., Howell R. R., Hussels I. E., Neufeld E. F., Stevenson R. E. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993–996. doi: 10.1016/s0140-6736(72)91159-2. [DOI] [PubMed] [Google Scholar]
  107. McKusick V. A., Kaplan D., Wise D., Hanley W. B., Suddarth S. B., Sevick M. E., Maumanee A. E. The genetic mucopolysaccharidoses. Medicine (Baltimore) 1965 Nov;44(6):445–483. doi: 10.1097/00005792-196511000-00001. [DOI] [PubMed] [Google Scholar]
  108. McKusick V. A. Phenotypic diversity of human diseases resulting from allelic series. Am J Hum Genet. 1973 Jul;25(4):446–456. [PMC free article] [PubMed] [Google Scholar]
  109. Melhem R., Dorst J. P., Scott C. I., Jr, McKusick V. A. Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). Radiology. 1973 Jan;106(1):153–160. doi: 10.1148/106.1.153. [DOI] [PubMed] [Google Scholar]
  110. Nordén N. E., Eriksson O., Hultberg B., Ockerman P. A. Gel chromatographic distribution of urinary carbohydrate compounds. Clin Chim Acta. 1973 Feb 28;44(1):95–100. doi: 10.1016/0009-8981(73)90164-2. [DOI] [PubMed] [Google Scholar]
  111. Nordén N. E., Ockerman P. A., Szabó L. Urinary mannose in mannosidosis. J Pediatr. 1973 Apr;82(4):686–688. doi: 10.1016/s0022-3476(73)80599-2. [DOI] [PubMed] [Google Scholar]
  112. O'BRIEN J. S., STERN M. B., LANDING B. H., O'BRIEN J. K., DONNELL G. N. GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM? Am J Dis Child. 1965 Apr;109:338–346. [PubMed] [Google Scholar]
  113. O'Brien J. S. Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. Proc Natl Acad Sci U S A. 1972 Jul;69(7):1720–1722. doi: 10.1073/pnas.69.7.1720. [DOI] [PMC free article] [PubMed] [Google Scholar]
  114. Ockerman P. A. Mannosidosis: isolation of oligosaccharide storage material from brain. J Pediatr. 1969 Sep;75(3):360–365. doi: 10.1016/s0022-3476(69)80259-3. [DOI] [PubMed] [Google Scholar]
  115. Okada S., O'Brien J. S. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(3831):1002–1004. doi: 10.1126/science.160.3831.1002. [DOI] [PubMed] [Google Scholar]
  116. Ormos J., Mónus Z., Szabó L., Csapó Z. Die Bedeutung der elektronenmikroskopischen Untersuchung der Leberbiopsie bei der Beurteilung der verschiedenen Mucopolysaccharidosen. Verh Dtsch Ges Pathol. 1971;55:399–405. [PubMed] [Google Scholar]
  117. Patel V., Watanabe I., Zeman W. Deficiency of alpha-L-fucosidase. Science. 1972 Apr 28;176(4033):426–427. doi: 10.1126/science.176.4033.426. [DOI] [PubMed] [Google Scholar]
  118. Philippart M. Le gargoylisme. Rein Foie. 1966 Jun;9:245–249. [PubMed] [Google Scholar]
  119. Philippart M., Sugarman G. I. Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome. Lancet. 1969 Oct 18;2(7625):854–854. doi: 10.1016/s0140-6736(69)92316-2. [DOI] [PubMed] [Google Scholar]
  120. Quigley H. A., Goldberg M. F. Conjunctival ultrastructure in mucolipidosis 3 (pseudo-Hurler polydystrophy). Invest Ophthalmol. 1971 Aug;10(8):568–580. [PubMed] [Google Scholar]
  121. ROY A. B. Comparative studies on the liver sulphatases. Biochem J. 1958 Mar;68(3):519–528. doi: 10.1042/bj0680519. [DOI] [PMC free article] [PubMed] [Google Scholar]
  122. Rampini S., Isler W., Baerlocher K., Bischoff A., Ulrich J., Plüss H. J. Die Kombination von metachromatischer Leukocystrophie und Mukopolysaccharidose als selbständliges Krankheitsbild (Mukosulfatidose) Helv Paediatr Acta. 1970 Nov;25(5):436–461. [PubMed] [Google Scholar]
  123. Resibois A., Tondeur M., Mockel S., Dustin P. Lysosomes and storage diseases. Int Rev Exp Pathol. 1970;9:93–149. [PubMed] [Google Scholar]
  124. Reynès M., Kalifat R., Diebold J. Etude ultrastructurale des histiocytes bleu marine dans une lipidose splénique idiopathique avec surcharge en céroides. Virchows Arch A Pathol Pathol Anat. 1973;360(4):349–358. [PubMed] [Google Scholar]
  125. SCHEIE H. G., HAMBRICK G. W., Jr, BARNESS L. A. A newly recognized forme fruste of Hurler's disease (gargoylism). Am J Ophthalmol. 1962 May;53:753–769. [PubMed] [Google Scholar]
  126. SELLINGER O. Z., BEAUFAY H., JACQUES P., DOYEN A., DE DUVE C. Tissue fractionation studies. 15. Intracellular distribution and properties of beta-N-acetylglucosaminidase and beta-galactosidase in rat liver. Biochem J. 1960 Mar;74:450–456. doi: 10.1042/bj0740450. [DOI] [PMC free article] [PubMed] [Google Scholar]
  127. Sacrez R., Juif J. G., Gigonnet J. M., Gruner J. E. La maladie de Landing ou idiotie amaurotique infantile précoce avec gangliosidose généralisée de type GM 1. Pediatrie. 1967 Mar;22(2):143–162. [PubMed] [Google Scholar]
  128. Schimke R. N., Horton W. A., King C. R. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet. 1971 Nov 13;2(7733):1088–1089. doi: 10.1016/s0140-6736(71)90400-4. [DOI] [PubMed] [Google Scholar]
  129. Seno N., Akiyama F., Anno K. A novel dermatan polysulfate from hagfish skin, containing trisulfated disaccharide residues. Biochim Biophys Acta. 1972 Mar 30;264(1):229–233. doi: 10.1016/0304-4165(72)90137-7. [DOI] [PubMed] [Google Scholar]
  130. Sjöberg I., Fransson L. A., Matalon R., Dorfman A. Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase. Biochem Biophys Res Commun. 1973 Oct 1;54(3):1125–1132. doi: 10.1016/0006-291x(73)90809-7. [DOI] [PubMed] [Google Scholar]
  131. Sly W. S., Quinton B. A., McAlister W. H., Rimoin D. L. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr. 1973 Feb;82(2):249–257. doi: 10.1016/s0022-3476(73)80162-3. [DOI] [PubMed] [Google Scholar]
  132. Spranger J. W., Koch F., McKusick V. A., Natzschka J., Wiedemann H. R., Zellweger H. Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv Paediatr Acta. 1970 Oct;25(4):337–362. [PubMed] [Google Scholar]
  133. Spranger J. W., Schuster W., Freitag F. Chondroitin-4-sulfate mucopolysaccharidosis. Helv Paediatr Acta. 1971 Oct;26(4):387–396. [PubMed] [Google Scholar]
  134. Spranger J. W., Wiedemann H. R. The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik. 1970;9(2):113–139. doi: 10.1007/BF00278928. [DOI] [PubMed] [Google Scholar]
  135. Spranger J. W., Wiedemann H. R. The genetic mucolipidoses. Neuropadiatrie. 1970 Aug;2(1):3–16. doi: 10.1055/s-0028-1091836. [DOI] [PubMed] [Google Scholar]
  136. Spranger J. The systemic mucopolysaccharidoses. Ergeb Inn Med Kinderheilkd. 1972;32:165–265. doi: 10.1007/978-3-642-65300-1_4. [DOI] [PubMed] [Google Scholar]
  137. Spranger J., Wiedemann H. R. Lipomucopolysaccharidosis--a second look. Lancet. 1969 Aug 2;2(7614):270–271. doi: 10.1016/s0140-6736(69)90038-5. [DOI] [PubMed] [Google Scholar]
  138. Spranger J., Wiedemann H. R., Tolksdorf M., Graucob E., Caesar R. Lipomucopolysaccharidose. Eine neue Speicherkrankheit. Z Kinderheilkd. 1968;103(4):285–306. [PubMed] [Google Scholar]
  139. Suzuki K. Cerebral GM1-gangliosidosis: chemical pathology of visceral organs. Science. 1968 Mar 29;159(3822):1471–1472. doi: 10.1126/science.159.3822.1471. [DOI] [PubMed] [Google Scholar]
  140. Suzuki K., Chen G. C. Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis). J Lipid Res. 1967 Mar;8(2):105–113. [PubMed] [Google Scholar]
  141. Suzuki K., Chen G. C. GM1-gangliosidosis (gneralized gangliosidosis). Morphology and chemical pathology. Pathol Eur. 1968;3(2):389–408. [PubMed] [Google Scholar]
  142. Suzuki K., Chen G. C. Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J Neuropathol Exp Neurol. 1968 Jan;27(1):15–38. doi: 10.1097/00005072-196801000-00002. [DOI] [PubMed] [Google Scholar]
  143. Suzuki K., Kamoshita S. Chemical pathology of G-m-1-gangliosidosis (generalized gangliosidosis). J Neuropathol Exp Neurol. 1969 Jan;28(1):25–73. doi: 10.1097/00005072-196901000-00003. [DOI] [PubMed] [Google Scholar]
  144. Suzuki Y., Crocker A. C., Suzuki K. G-M1-gangliosidosis. Correlation of clinical and biochemical data. Arch Neurol. 1971 Jan;24(1):58–64. doi: 10.1001/archneur.1971.00480310086008. [DOI] [PubMed] [Google Scholar]
  145. Taber P., Gyepes M. T., Philippart M., Ling S. Roentgenographic manifestations of Leroy's I-cell disease. Am J Roentgenol Radium Ther Nucl Med. 1973 May;118(1):213–221. doi: 10.2214/ajr.118.1.213. [DOI] [PubMed] [Google Scholar]
  146. Taketomi T., Yamakawa T. Glycolipids of the brain in gargoylism. Jpn J Exp Med. 1967 Feb;37(1):11–21. [PubMed] [Google Scholar]
  147. Thieffry S., Lyon G., Maroteaux P. Encephalopathie metabolique associant une mucopolysaccharidose et une sulfatidose. Arch Fr Pediatr. 1967 Apr;24(4):425–432. [PubMed] [Google Scholar]
  148. Thompson G. R., Nelson N. A., Castor C. W., Grobelny S. L. A mucopolysaccharidosis with increased urinary excretion of chondroitin-4 sulfate. Ann Intern Med. 1971 Sep;75(3):421–426. doi: 10.7326/0003-4819-75-3-421. [DOI] [PubMed] [Google Scholar]
  149. Tondeur M., Loeb H. Etude ultrastructurelle du foie dans la maladie de Morquio. Pediatr Res. 1969 Jan;3(1):19–26. doi: 10.1203/00006450-196901000-00003. [DOI] [PubMed] [Google Scholar]
  150. Tondeur M., Vamos-Hurwitz E., Mockel-Pohl S., Dereume J. P., Cremer N., Loeb H. Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. J Pediatr. 1971 Sep;79(3):366–378. doi: 10.1016/s0022-3476(71)80143-9. [DOI] [PubMed] [Google Scholar]
  151. Tulkens P., Trouet A., Van Hoof F. Immunological inhibition of lysosome function. Nature. 1970 Dec 26;228(5278):1282–1285. doi: 10.1038/2281282a0. [DOI] [PubMed] [Google Scholar]
  152. VANHOOF F., HERS H. G. L'ULTRASTRUCTURE LES CELLULES H'EPATIQUES DANS LA MALADIE DE HUERLER (GARGOYLISME) C R Hebd Seances Acad Sci. 1964 Aug 3;259:1281–1283. [PubMed] [Google Scholar]
  153. VIALA R., GIANETTO R. The binding of sulphatase by rat-liver particles as compared to that of acid phosphatase. Can J Biochem Physiol. 1955 Sep;33(5):839–844. [PubMed] [Google Scholar]
  154. VON HIRSCH T., PEIFFER J. Uber histologische Methoden in der Differentialdiagnose von Leukodystrophien und Lipoidosen. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955;194(1):88–104. doi: 10.1007/BF00392351. [DOI] [PubMed] [Google Scholar]
  155. Vaes G. On the mechanisms of bone resorption. The action of parathyroid hormone on the excretion and synthesis of lysosomal enzymes and on the extracellular release of acid by bone cells. J Cell Biol. 1968 Dec;39(3):676–697. doi: 10.1083/jcb.39.3.676. [DOI] [PMC free article] [PubMed] [Google Scholar]
  156. Van Hoof F., Hers H. G. Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968 Jun 1;1(7553):1198–1198. doi: 10.1016/s0140-6736(68)91895-3. [DOI] [PubMed] [Google Scholar]
  157. Van Hoof F., Hers H. G. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem. 1968 Dec;7(1):34–44. doi: 10.1111/j.1432-1033.1968.tb19570.x. [DOI] [PubMed] [Google Scholar]
  158. Varadi D. P., Cifonelli J. A., Dorfman A. The acid mucopolysaccharides in normal urine. Biochim Biophys Acta. 1967 Jun 13;141(1):103–117. doi: 10.1016/0304-4165(67)90249-8. [DOI] [PubMed] [Google Scholar]
  159. Voelz C., Tolksdorf M., Freitag F., Spranger J. Fucosidose. Monatsschr Kinderheilkd. 1971 Jul;119(7):352–355. [PubMed] [Google Scholar]
  160. WOLFE H. J., BLENNERHASSET J. B., YOUNG G. F., COHEN R. B. HURLER'S SYNDROME: A HISTOCHEMICAL STUDY. NEW TECHNIQUES FOR LOCALIZATION OF VERY WATER-SOLUBLE ACID MUGOPOLYSACCHARIDES. Am J Pathol. 1964 Dec;45:1007–1027. [PMC free article] [PubMed] [Google Scholar]
  161. Walbaum R., Dehaene P., Scharfman W., Farriaux J. P., Tondeur M., Vamos-Hurwitz E., Kint J. A., Van Hoof F. La mucolipidose de type II (I-cell disease) Arch Fr Pediatr. 1973 Jun-Jul;30(6):577–593. [PubMed] [Google Scholar]
  162. Weissmann B., Hinrichsen D. F. Mammalian alpha-acetylgalactosaminidase. Occurrence, partial purification, and action on linkages in submaxillary mucins. Biochemistry. 1969 May;8(5):2034–2043. doi: 10.1021/bi00833a038. [DOI] [PubMed] [Google Scholar]
  163. Weissmann B., Rowin G., Marshall J., Friederici D. Mammalian alpha-acetylglucosaminidase. Enzymic properties, tissue distribution, and intracellular localization. Biochemistry. 1967 Jan;6(1):207–214. doi: 10.1021/bi00853a033. [DOI] [PubMed] [Google Scholar]
  164. Weissmann B., Santiago R. -L-iduronidase in lysosomal extracts. Biochem Biophys Res Commun. 1972 Feb 16;46(3):1430–1433. doi: 10.1016/s0006-291x(72)80136-0. [DOI] [PubMed] [Google Scholar]
  165. Wherrett J. R. Analysis of glycolipids in the Hurler syndrome. Pathol Eur. 1968;3(2):431–439. [PubMed] [Google Scholar]
  166. Wiesmann U. N., Lightbody J., Vassella F., Herschkowitz N. N. Multiple lysosomal deficiency due to enzyme leakage? N Engl J Med. 1971 Jan 14;284(2):109–110. doi: 10.1056/NEJM197101142840221. [DOI] [PubMed] [Google Scholar]
  167. Wiesmann U., Neufeld E. F. Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science. 1970 Jul 3;169(3940):72–74. doi: 10.1126/science.169.3940.72. [DOI] [PubMed] [Google Scholar]
  168. Wiesmann U., Vassella F., Herschkowitz N. "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids. N Engl J Med. 1971 Nov 4;285(19):1090–1091. doi: 10.1056/NEJM197111042851922. [DOI] [PubMed] [Google Scholar]
  169. Winchester P., Grossman H., Lim W. N., Danes B. S. A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):121–128. doi: 10.2214/ajr.106.1.121. [DOI] [PubMed] [Google Scholar]
  170. Zielke K., Veath M. L., O'Brien J. S. Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts. J Exp Med. 1972 Jul 1;136(1):197–199. doi: 10.1084/jem.136.1.197. [DOI] [PMC free article] [PubMed] [Google Scholar]
  171. de Duve C., de Barsy T., Poole B., Trouet A., Tulkens P., Van Hoof F. Commentary. Lysosomotropic agents. Biochem Pharmacol. 1974 Sep 15;23(18):2495–2531. doi: 10.1016/0006-2952(74)90174-9. [DOI] [PubMed] [Google Scholar]
  172. de Montis G., Garnier P., Thomassin N., Job J. C., Rossier A. La mucolipidose type II (maladie des cellules à inclusions). Etude d'un cas et revue de la littérature. Ann Pediatr (Paris) 1972 May 2;19(5):369–379. [PubMed] [Google Scholar]
  173. van Hoof F., Hers H. G. L'ultrastructure du foie dans certaines thesaurismoses. Rev Int Hepatol. 1967;17(8):815–826. [PubMed] [Google Scholar]
  174. von Figura K., Kresse H. The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase. Biochem Biophys Res Commun. 1972 Jul 25;48(2):262–269. doi: 10.1016/s0006-291x(72)80044-5. [DOI] [PubMed] [Google Scholar]

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