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U. Mittwoch (1961)
Inclusions of Mucopolysaccharide in the Lymphocytes of Patients with GargoylismNature, 191
V.A. McKusick
Heritable Disorders of Connective Tissue
J.G. Leroy (1966)
Inborn Disorders of Sphingolipid Metabolism
I. Steiness (1961)
ACID MUCOPOLYSACCHARIDES IN URINE IN GARGOYLISMPediatrics, 27
J.F. Murray (1959)
Pulmonary Disability in the Hurler SyndromeNew Eng J Med, 261
S. Sanfilippo, R. Podosin, L. Langer, R. Good (1963)
Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)The Journal of Pediatrics, 63
B.H. Landing (1964)
Familial Neurovisceral LipidosisAmer J Dis Child, 108
J. Clausen, H. Dyggve, J. Melchior (1963)
MucopolysaccharidosisArchives of Disease in Childhood, 38
Kelland Terry, A. Linker (1964)
Distinction Among Four Forms of Hurler's Syndrome.∗ †Proceedings of the Society for Experimental Biology and Medicine, 115
R.S. Danes (1966)
Hurler's Syndrome: A Genetic Study in Cell CultureJ Exp Med, 123
V.A. McKusick (1965)
The Genetic MucopolysaccharidosesCirculation, 31
B. Danes, A. Bearn (1966)
HURLER'S SYNDROMEThe Journal of Experimental Medicine, 123
B. Landing, F. Silverman, J. Craig, M. Jacoby, M. Lahey, D. Chadwick (1964)
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".American journal of diseases of children, 108
R.C. Harris (1961)
Mucopolysaccharide Disorder: A Possible New Genotype of Hurler's SyndromeAmer J Dis Child, 102
J. Leroy, A. Crocker (1967)
STUDIES ON THE GENETICS OF THE HURLER–HUNTER SYNDROME*
Teller Wm, E. Burke, J. Rosevear, McKENZIE Bf (1962)
Urinary excretion of acid mucopolysaccharides in normal children and patients with gargoylism.The Journal of laboratory and clinical medicine, 59
C. Hunter (1917)
A Rare Disease in Two BrothersProc Roy Soc Med, 10
H.G. Scheie , G.W. Hambrick, L.A. and Barness (1962)
A Newly Recognized Forme Fruste of Hurler's DiseaseAmer J Ophthal, 53
H.A. Hienz (1960)
Die Pfaundler-Hurlerschi KrankheitErgeb Allg Path, 40
A. Coran, A. Eraklis (1967)
Inguinal hernia in the Hurler-Hunter syndrome.Surgery, 61 2
F. Aleu, R. Terry, H. Zellweger (1965)
ELECTRON MICROSCOPY OF TWO CEREBRAL, BIOPSIES IN GARGOYLISMJournal of Neuropathology and Experimental Neurology, 24
G. Hurler (1919)
Ueber einen Typ multipler Abartungen, Vorwiegend, am SkelettsystemZ Kinderheilk, 24
I. Berggard (1965)
The Hurler Syndrome: A Biochemical and Clinical SyndromeAmer J Med, 39
P. Maroteaux (1964)
L'Oligophrenie polydystrophiquePresse Med, 72
K. Meyer (1958)
Excretion of Sulfated Mucopolysaccharides in GargoylismProc Soc Exp Biol Med, 97
A. Dorfman (1963)
First Inter-American Conference on Congenital Defects
H.J. Wolfe (1964)
Hurler's SyndromeAmer J Path, 45
P. Maroteaux, M. Lamy (1965)
Hurler's disease, Morquio's disease, and related mucopolysaccharidosesThe Journal of Pediatrics, 67
S. Sanfilippo, R. Good (1962)
Urinary acid mucopolysaccharides (AMP) in the Hurler syndrome and Morquio's disease.The Journal of pediatrics, 61
J. Murray (1959)
Pulmonary disability in the Hurler syndrome (lipochondrodystrophy): a study of two cases.The New England journal of medicine, 261
G. Hambrick, H. Scheie (1962)
Studies of the skin in Hurler's syndrome: mucopolysaccharidosis.Archives of dermatology, 85
Albert Dorfman, Andrew LORINCZt (2004)
OCCURRENCE OF URINARY ACID MI UCOPOLYSACCHARIDES IN THE HURLER SYNDROMIE*
B. Danes, A. Bearn (1965)
Hurler's Syndrome: Demonstration of an Inherited Disorder of Connective Tlssue in Cell CultureScience, 149
Ingemar Berggård, A. Bearn (1965)
The Hurler syndrome: A biochemical and clinical studyThe American Journal of Medicine, 39
K. Meyer (1959)
Sulfated Mucopolysaccharides of Urine and Organs in GargoylismProc Soc Exp Biol Med, 102
A.C. Crocker (1961)
The Cerebral Defect in TaySachs Disease and Niemann-Pick DiseaseJ Neurochem, 7
P. Maroteaux, M. Lamy (1964)
[POLYDYSTROPHIC OLIGOPHRENIA (HEPARIN-SULFATE TYPE MUCOPOLYSACCHARIDOSIS)].La Presse medicale, 72
H. Berry, J. Spinanger (1960)
A paper spot test useful in study of Hurler's syndrome.The Journal of laboratory and clinical medicine, 55
D. Lang (1966)
The association of indirect inguinal hernia with congenital cytomegalic inclusion disease.Pediatrics, 38 5
H. Wolfe, J. Blennerhasset, G. Young, R. Cohen (1964)
HURLER'S SYNDROME: A HISTOCHEMICAL STUDY. NEW TECHNIQUES FOR LOCALIZATION OF VERY WATER-SOLUBLE ACID MUGOPOLYSACCHARIDES.The American journal of pathology, 45
S.L. Wolfson (1963)
Long-Term Corticosteroid Therapy in Hurler's SyndromeAmer J Dis Child, 106
V. McKusick, D. Kaplan, D. Wise, W. Hanley, S. Suddarth, M. Sevick, A. Maumanee (1965)
THE GENETIC MUCOPOLYSACCHARIDOSESMedicine, 44
G.W. Hambrick (1962)
Studies of the Skin in Hurler's SyndromeArch Derm, 85
C. Hunter (1917)
A Rare Disease in Two BrothersJournal of the Royal Society of Medicine, 10
U. Mittwoch (1959)
Abnormal Lymphocytes in GargoylismBritish Journal of Haematology, 5
J. Clausen , H.V. Dyggve, J.C. and Melchior (1963)
Mucopolysaccharidosis: Paper Electrophoretic and Infra-Red Analysis of the Urine in Gargoylism and Morquio-Ullrich's DiseaseArch Dis Child, 38
C. Scott, D. Lagunoff, B. Trump (1967)
Familial neurovisceral lipidosis.The Journal of pediatrics, 71 3
Abstract IN RECENT years increasing attention has been paid to the biochemical handicap in mucopolysaccharide metabolism shown by the children with Hurler's disease or with other forms of the Hurler-Hunter syndrome. Many reports have described the clinical features of individual typical patients, usually when advanced in manifestation, as an illustration of the bodily handicaps which accompany the demonstrated abnormality in the tissue and urinary mucopolysaccharide levels. No articles, however, have been directed toward early diagnostic problems and eventual natural history of an inclusive series of children in each of the phenotypic categories. The biochemical classification of the various subdivisions of the Hurler-Hunter syndrome is still imperfect, and prognostication and genetic counselling must rest at present on accurate classification of the pediatric patient on clinical grounds. Some major patterns with consistent expression and significant incidence have emerged, though certain patients show the abnormal mucopolysaccharide excretion but have clinical manifestations beyond the current References 1. McKusick, V.A.: Heritable Disorders of Connective Tissue , ed 2, St. Louis: The C. V. Mosby Co., Medical Publishers, p 242. 2. Hienz, H.A.: Die Pfaundler-Hurlerschi Krankheit , Ergeb Allg Path 40:1, 1960. 3. Dorfman, A.: "The Hurler Syndrome," in First Inter-American Conference on Congenital Defects , Philadelphia: J. B. Lippincott Co., 1963, p 41. 4. Maroteaux, P., and Lamy, M.: Hurler's Disease, Morquio's Disease, and Related Mucopolysaccharidoses , J Pediat 67:312, 1965.Crossref 5. Berggard, I., and Bearn, A.G.: The Hurler Syndrome: A Biochemical and Clinical Syndrome , Amer J Med 39:221, 1965.Crossref 6. McKusick, V.A., et al: The Genetic Mucopolysaccharidoses , Medicine 44:445-483, 1965.Crossref 7. Hurler, G.: Ueber einen Typ multipler Abartungen, Vorwiegend, am Skelettsystem , Z Kinderheilk 24:220, 1919.Crossref 8. Hunter, C.: A Rare Disease in Two Brothers , Proc Roy Soc Med 10:104, 1917. 9. Harris, R.C.: Mucopolysaccharide Disorder: A Possible New Genotype of Hurler's Syndrome , Amer J Dis Child 102:741, 1961. 10. Sanfilippo, S.J., et al: Mental Retardation Associated With Acid Mucopolysacchariduria (Heparitin Sulfate Type) , J Pediat 63:837, 1963.Crossref 11. Maroteaux, P., and Lamy, M.: L'Oligophrenie polydystrophique , Presse Med 72:2991, 1964. 12. Terry, K., and Linker, A.: Distinction Among Four Forms of Hurler's Syndrome , Proc Soc Exper Biol Med 114:394, 1964.Crossref 13. Scheie, H.G.; Hambrick, G.W., Jr.; and Barness, L.A.: A Newly Recognized Forme Fruste of Hurler's Disease , Amer J Ophthal 53:753, 1962. 14. Landing, B.H., et al: Familial Neurovisceral Lipidosis , Amer J Dis Child 108:503, 1964.Crossref 15. Leroy, J.G., and Crocker, A.C.: "Studies on the Genetics of the Hurler-Hunter Syndrome," in Aronson, S. M., and Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism , New York: Pergamon Press, 1966, pp 455-473. 16. Danes, R.S., and Bearn, A.G.: Hurler's Syndrome: Demonstration of an Inherited Disorder of Connective Tissue in Cell Culture , Science 149:987, 1965.Crossref 17. Danes, R.S., and Bearn, A.G.: Hurler's Syndrome: A Genetic Study in Cell Culture , J Exp Med 123:1-16, 1966.Crossref 18. Contis, G., et al: Cardiac Aspects of the Hurler-Hunter Syndrome, in preparation. 19. Coran, A., and Eraklis, A.J.: Inguinal Hernia in the Hurler-Hunter Syndrome , Surgery , to be published. 20. Kelemen, G.: Hurler's Syndrome and the Hearing Organ, in preparation. 21. Lang, D.J.: The Association of Indirect Inguinal Hernia With Congenital Cytomegalic Inclusion Disease , Pediatrics , to be published. 22. Hambrick, G.W., Jr., and Scheie, H.G.: Studies of the Skin in Hurler's Syndrome , Arch Derm 85:455, 1962.Crossref 23. Murray, J.F.: Pulmonary Disability in the Hurler Syndrome; A Study of Two Cases , New Eng J Med 261:378, 1959.Crossref 24. Dorfman, A., and Lorincz, A.E.: Occurrence of Urinary Acid Mucopolysaccharides in the Hurler Syndrome , Proc Nat Acad Sci 43:443, 1957.Crossref 25. Meyer, K., et al: Excretion of Sulfated Mucopolysaccharides in Gargoylism , Proc Soc Exp Biol Med 97:275, 1958.Crossref 26. Meyer, K., et al: Sulfated Mucopolysaccharides of Urine and Organs in Gargoylism , Proc Soc Exp Biol Med 102:587, 1959.Crossref 27. Steiness, I.: Acid Mucopolysaccharides in Urine in Gargoylism , Pediatrics 27:112, 1961. 28. Sanfilippo, S.J., and Good, R.A.: Urinary Acid Mucopolysaccharides in the Hurler Syndrome and Morquio's Disease , J Pediat 61:296, 1962.Crossref 29. Teller, W.M., et al: Urinary Excretion of Acid Mucopolysaccharides in Normal Children and Patients With Gargoylism , J Lab Clin Med 59:95, 1962. 30. Clausen, J.; Dyggve, H.V.; and Melchior, J.C.: Mucopolysaccharidosis: Paper Electrophoretic and Infra-Red Analysis of the Urine in Gargoylism and Morquio-Ullrich's Disease , Arch Dis Child 38:364, 1963.Crossref 31. McKusick, V.A.: The Genetic Mucopolysaccharidoses , Circulation 31:1, 1965.Crossref 32. Berry, H.K., and Spinanger, J.: A Paper Spot Test Useful in the Study of Hurler's Syndrome , J Lab Clin Med 55:136, 1960. 33. Mittwoch, U.: Abnormal Lymphocytes in Gargoylism , Brit J Haemat 5:365, 1959.Crossref 34. Mittwoch, U.: Inclusions of Mucopolysaccharides in the Lymphocytes of Patients with Gargoylism , Nature 191:1315, 1961.Crossref 35. Aleu, F.P.; Terry, R.D.; and Zellweger, H.: Electron Microscopy in Two Cerebral Biopsies in Gargoylism , J Neuropath Exp Neurol 24:304, 1965.Crossref 36. Wolfe, H.J., et al: Hurler's Syndrome; A Histochemical Study , Amer J Path 45:1007, 1964. 37. Crocker, A.C.: The Cerebral Defect in TaySachs Disease and Niemann-Pick Disease , J Neurochem 7:69, 1961.Crossref 38. Wolfson, S.L., et al: Long-Term Corticosteroid Therapy in Hurler's Syndrome , Amer J Dis Child 106:37, 1963.
American Journal of Diseases of Children – American Medical Association
Published: Dec 1, 1966
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