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Original Article

Gargoylism – A mucopolysaccharidosis

Pages 43-46 | Received 07 Nov 1951, Published online: 13 May 2010

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Molly Stapleton, Francyne Kubaski, Robert W. Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii & Shunji Tomatsu. (2017) Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). Expert Opinion on Orphan Drugs 5:4, pages 295-307.
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Boleslaw Lach & Maria D. Haust. (2011) Nodular Lesions of Choroid Plexus in Hurler Disease. Fetal and Pediatric Pathology 30:3, pages 189-198.
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Doug A Brooks. (2002) α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I. Expert Opinion on Biological Therapy 2:8, pages 967-976.
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Francesca D’Avanzo, Laura Rigon, Alessandra Zanetti & Rosella Tomanin. (2020) Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment. International Journal of Molecular Sciences 21:4, pages 1258.
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Dena Matalon, Kimberlee Michals Matalon Rd & Reuben Matalon. 2020. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 493 511 .
Hansjosef BöhlesHansjosef Böhles. 2020. Historische Fälle aus der Medizin. Historische Fälle aus der Medizin 221 231 .
Anuradha Ganesh, Fathiya Al-Murshedi, Sana Al-Zuhaibi & Khalid Al-Thihli. 2017. The Eye in Pediatric Systemic Disease. The Eye in Pediatric Systemic Disease 359 460 .
Antonio Leone, Donato Rigante, Daniele Zaccaria Amato, Roberto Casale, Luigi Pedone, Nicola Magarelli & Cesare Colosimo. (2014) Spinal involvement in mucopolysaccharidoses: a review. Child's Nervous System 31:2, pages 203-212.
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Maria Francisca Coutinho, Liliana Matos & Sandra Alves. (2015) From bedside to cell biology: A century of history on lysosomal dysfunction. Gene 555:1, pages 50-58.
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Marwan A.S. Bukhari. 2015. Rheumatology. Rheumatology 1711 1714 .
Reuben Matalon, Kimberlee Michals Matalon & Geetha L. Radhakrishnan. 2015. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 347 363 .
Timothy J. Mick. 2014. Clinical Imaging. Clinical Imaging 425 475 .
Michael Beck. 2013. Enzyme Technologies. Enzyme Technologies 301 319 .
Roberto Giugliani. (2012) Mucopolysacccharidoses: from understanding to treatment, a century of discoveries. Genetics and Molecular Biology 35:4 suppl 1, pages 924-931.
Crossref
William Nyhan, Bruce Barshop & Aida Al-Aqeel. 2011. Atlas of Inherited Metabolic Diseases 3E. Atlas of Inherited Metabolic Diseases 3E 555 557 .
Karie A. Heinecke, Brandon N. Peacock, Bruce R. Blazar, Jakub Tolar & Thomas N. Seyfried. (2011) Lipid Composition of Whole Brain and Cerebellum in Hurler Syndrome (MPS IH) Mice. Neurochemical Research 36:9, pages 1669-1676.
Crossref
Julian R. Arthur, Karie A. Heinecke & Thomas N. Seyfried. (2011) Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain. Journal of Lipid Research 52:7, pages 1345-1351.
Crossref
Mirella Filocamo, David N Cooper & Maja Di Rocco. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
Marwan A.S. Bukhari. 2011. Rheumatology. Rheumatology 2037 2040 .
Emma J. Parkinson-Lawrence, Tetyana Shandala, Mark Prodoehl, Revecca Plew, Glenn N. Borlace & Doug A. Brooks. (2010) Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology. Physiology 25:2, pages 102-115.
Crossref
R. Martin, M. Beck, C. Eng, R. Giugliani, P. Harmatz, V. Munoz & J. Muenzer. (2008) Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome). PEDIATRICS 121:2, pages e377-e386.
Crossref
Zoltan Lukacs. 2008. Laboratory Guide to the Methods in Biochemical Genetics. Laboratory Guide to the Methods in Biochemical Genetics 287 324 .
John A. Barranger & Mario A. Cabrera-SalazarShunji Tomatsu, Adriana M. Montaño, Tatsuo Nishioka & Tadao Orii. 2007. Lysosomal Storage Disorders. Lysosomal Storage Disorders 433 445 .
Ed J Wraith, John J Hopwood, Maria Fuller, Peter J Meikle & Doug A Brooks. (2005) Laronidase Treatment of Mucopolysaccharidosis I. BioDrugs 19:1, pages 1-7.
Crossref
G. Ocvrik, H. Salimi-Moosavi, R.J. Szarka, E.A. Arriaga, P.E. Andersson, R. Smith, N.J. Dovichi & D.J. Harrison. (2004) Galactosidase Assays of Single-Cell Lysates on a Microchip: A Complementary Method for Enzymatic Analysis of Single Cells. Proceedings of the IEEE 92:1, pages 115-125.
Crossref
J E Stone. (2016) Urine Analysis in the Diagnosis of Mucopolysaccharide Disorders. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 35:2, pages 207-225.
Crossref
Nicola Petitti, Chad A. Holder & Daniel W. Williams. (1997) Mucopolysaccharidosis III (Sanfilippo Syndrome) Type B: Cranial Imaging in Two Cases. Journal of Computer Assisted Tomography 21:6, pages 897-899.
Crossref
. 1995. Metabolic and Degenerative Diseases of the Central Nervous System. Metabolic and Degenerative Diseases of the Central Nervous System 707 850 .
Ali Shilatifard & Richard D. Cummings. (2002) Purification and Characterization of N-Acetylglucosamine-6-sulfate Sulfatase from Bovine Kidney: Evidence for the Presence of a Novel Endosulfatase Activity. Biochemistry 33:14, pages 4273-4282.
Crossref
Jeffrey M. Resnick, Chester B. Whitley, Arnold S. Leonard, William Krivit & Dale C. Snover. (1994) Light and electron microscopic features of the liver in mucopolysaccharidosis. Human Pathology 25:3, pages 276-286.
Crossref
T Nakamura, K Miwa, S Kanda, K Nonaka, H Anan, S Higash & K Beppu. (1992) Rosette formation of impacted molar teeth in mucopolysaccharidoses and related disorders.. Dentomaxillofacial Radiology 21:1, pages 45-49.
Crossref
Reinhard L. FriedeReinhard L. Friede. 1989. Developmental Neuropathology. Developmental Neuropathology 406 424 .
H. Landau, R. -R. Miethke & W. Entrup. (1988) Zahnärztlich-kieferorthopädische Befunde bei Patienten mit Mukopolysaccharidosen. Fortschritte der Kieferorthopädie 49:2, pages 132-143.
Crossref
Helen K. Berry. (1987) Screening for mucopolysaccharide disorders with the berry spot test. Clinical Biochemistry 20:5, pages 365-371.
Crossref
Tetsuzo Fujitani, Akira Kimura, Kenzo Inoue & Satoshi Okada. (1985) Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. International Journal of Pediatric Otorhinolaryngology 10:3, pages 205-212.
Crossref
Tanaka Yukio & Takazono Isoko. (1984) Isolation and characterization of peptidoglycans in urine from patients with mucopolysaccharidoses. International Journal of Biochemistry 16:5, pages 435-446.
Crossref
Arvan L. Fluharty. (1982) The Mucopolysaccharidoses: A Synergism between Clinical and Basic Investigation.. Journal of Investigative Dermatology 79:s1, pages 38s-44s.
Crossref
H. Kresse, M. Cantz, K. Figura, J. Glössl & E. Paschke. (1981) The mucopolysaccharidoses: Biochemistry and clinical symptomsMucopolysaccharidosen: Biochemie und klinische Symptome. Klinische Wochenschrift 59:16, pages 867-876.
Crossref
. 1980. Principles of X-ray Diagnosis of the Skull. Principles of X-ray Diagnosis of the Skull 376 393 .
Andrew E. Lorincz. (1978) The Mucopolysaccharidoses: Advances in Understanding and Treatment. Pediatric Annals 7:2, pages 64-98.
Crossref
Hisako Endo, Sadi F. Al-Samarrai, Kouko Sakakibara, Kazuo Nagashima & Yukihiko Shimada. (1977) A NEW TYPE OF MUCOLIPIDOSIS ASSOCIATED WITH HEREDITARY THROMBOCYTOPATHY AND COLOR BLINDNESS. Pathology International 27:3, pages 421-434.
Crossref
Anatole S. Dekaban & George Constantopoulos. (1977) Mucopolysaccharidosis types I, II, IIIA and V. Acta Neuropathologica 39:1, pages 1-7.
Crossref
Vicente G. Rentería, Victor J. Ferrans & William C. Roberts. (1976) The heart in the Hurler syndrome. The American Journal of Cardiology 38:4, pages 487-501.
Crossref
Ryuya Horiuchi, Hidekazu Ishikawa, Yoko Ishii, Yuko Watanabe, Tetsuro Noguchi & Shigeoki Suzuki. (2015) MUCOPOLYSACCHARIDOSIS WITH SPECIAL REFERENCE TO SCHEIE SYNDROME. The Journal of Dermatology 3:4, pages 171-178.
Crossref
G. Constantopoulos, R. D. Mccomb & A. S. Dekaban. (2006) NEUROCHEMISTRY OF THE MUCOPOLYSACCHARIDOSES: BRAIN GLYCOSAMINOGLYCANS IN NORMALS AND FOUR TYPES OF MUCOPOLYSACCHARIDOSES. Journal of Neurochemistry 26:5, pages 901-908.
Crossref
M. Cantz & J. Gehler. (1976) The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism. Human Genetics 32:3, pages 233-255.
Crossref
Frank W. Newell, Reuben Matalon & Steven Meyer. (1975) A New Mucolipidosis with Psychomotor Retardation, Corneal Clouding, and Retinal Degeneration. American Journal of Ophthalmology 80:3, pages 440-449.
Crossref
CYRIL P. LEGUM, SAMUEL SCHORR & ELAINE R. BERMAN. (1975) The Genetic Mucopolysaccharidoses and Mucolipidoses: Review and Comment. Advances in Pediatrics 22:1, pages 305-345.
Crossref
Ulrich N. Wiesmann. 1975. Inborn Errors of Skin, Hair and Connective Tissue. Inborn Errors of Skin, Hair and Connective Tissue 203 225 .
Albert Dorfman, Reuben Matalon, Jerry N. Thompson, J. Anthony Cifonelli, Glyn Dawson, Allen C. Stoolmiller & Stanford T. Lamberg. 1975. Inborn Errors of Skin, Hair and Connective Tissue. Inborn Errors of Skin, Hair and Connective Tissue 163 177 .
Reinhard L. FriedeReinhard L. Friede. 1975. Developmental Neuropathology. Developmental Neuropathology 368 385 .
Stanford I. Lamberg & Allen C. Stoolmiller. (1974) Glycosaminoglycans. A Biochemical and Clinical Review††From the Departments of Medicine, Pediatrics, and Biochemistry, The Joseph P. Kennedy Jr. Mental Retardation Center, and the LaRabida-University of Chicago Institute, Pritzer School of Medicine, University of Chicago, Chicago, Illinois, 60633. Journal of Investigative Dermatology 63:6, pages 433-449.
Crossref
P. F. Benson. (2008) ENZYME DEFECTS OF GLYCOSAMINOGLYCAN DEGRADATION IN THE MUCOPOLYSACCHARIDOSES. Developmental Medicine & Child Neurology 16:4, pages 534-539.
Crossref
Albert Dorfman. (1974) Adventures in viscous solutions. Molecular and Cellular Biochemistry 4:1, pages 45-65.
Crossref
J. Spranger. 1974. Erbliche Defekte des Kohlenhydrat-, Aminosäuren- und Proteinstoffwechsels. Erbliche Defekte des Kohlenhydrat-, Aminosäuren- und Proteinstoffwechsels 209 270 .
Josef Warkany. (1973) Dwarfs and other little people: An overview. Seminars in Roentgenology 8:2, pages 135-138.
Crossref
P.A. Roukema, C.H. Oderkerk & G. Van den Berg. (1973) Gargoylism (mucopolysaccharidosis type II). accumulation of glycosaminoglycans, gangliosides and glycoproteins and activity of some related glycolytic enzymes in liver, spleen and brain. Clinica Chimica Acta 44:3, pages 277-286.
Crossref
J. Kimmig & H. W. Kreysel. (1973) Zur Morphologie, Biochemie und Funktion der Proteoglycane in der DermatologieFunction and physico-chemical properties of proteoglycans in dermatological diseases. Klinische Wochenschrift 51:5, pages 207-213.
Crossref
Carol W. Booth & Henry L. Nadler. (1973) Plasma infusions in an infant with Hurler's syndrome. The Journal of Pediatrics 82:2, pages 273-278.
Crossref
B. Shannon Danes. (2008) Corneal clouding in the genetic mucopolysaccharidoses: A cell culture study. Clinical Genetics 4:1, pages 1-7.
Crossref
Elizabeth F. Neufeld & Robert W. Barton. 1973. Biology of Brain Dysfunction. Biology of Brain Dysfunction 1 30 .
B Levin, J Fajerman & N M Jacoby. (2016) Mucopolysaccharidosis. Proceedings of the Royal Society of Medicine 65:4, pages 339-341.
Crossref
Noboru Taniguchi. (1972) Age differences in the pattern of urinary glycosaminoglycan excretion in normal individuals. Clinica Chimica Acta 37, pages 225-233.
Crossref
J. Spranger. 1972. Ergebnisse der Inneren Medizin und Kinderheilkunde. Ergebnisse der Inneren Medizin und Kinderheilkunde 165 265 .
Richard Haubrich & Friedrich Heuck. 1972. Klinische Röntgendiagnostik Innerer Krankheiten. Klinische Röntgendiagnostik Innerer Krankheiten 55 213 .
Albert Dorfman, Reuben Matalon, J. Anthony Cifonelli, Jerry Thompson & Glyn Dawson. 1972. Sphingolipids, Sphingolipidoses and Allied Disorders. Sphingolipids, Sphingolipidoses and Allied Disorders 195 210 .
Kunihiko Suzuki. 1972. Handbook of Neurochemistry. Handbook of Neurochemistry 17 32 .
O. A. Jensen. (2009) MUCOPOLYSACCHARIDOSIS TYPE III (SANFILIPPO'S SYNDROME). Acta Pathologica Microbiologica Scandinavica Section A Pathology 79A:3, pages 257-273.
Crossref
G. Nuki & J. Ferguson. (1971) Studies on the nature and significance of macromolecular complexes in the rheology of synovial fluid from normal and diseased human joints. Rheologica Acta 10:1, pages 8-14.
Crossref
J. R. Bierich, H.-R. Wiedemann, H.-J. Rohwedder & A. Schwenk. 1971. Geschichte der Kinderheilkunde Physiologie und Pathologie der Entwicklung. Geschichte der Kinderheilkunde Physiologie und Pathologie der Entwicklung 803 891 .
J. Clausen, H.V. Dyggve & J.C. Melchior. (1970) Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation. Clinica Chimica Acta 29:2, pages 197-207.
Crossref
Elizabeth F. Neufeld & Joseph C. Fratantoni. (1970) Inborn Errors of Mucopolysaccharide Metabolism. Science 169:3941, pages 141-146.
Crossref
V. Patel, A.L. Tappel & J.S. O'Brien. (1970) Hyaluronidase and sulfatase deficiency in Hurler's syndrome. Biochemical Medicine 3:6, pages 447-457.
Crossref
R. Emanuel. (1970) Genetics and congenital heart disease. Heart 32:3, pages 281-291.
Crossref
Jinichi Onisawa & Ting-Yang Lee. (1970) Increased urinary excretion of chondroitin sulfate A and C in Hunter's syndrome. Biochimica et Biophysica Acta (BBA) - General Subjects 208:1, pages 144-147.
Crossref
Jinichi Onisawa & Ting-Yang Lee. (1970) Biochemical studies of urinary acid mucopolysaccharide-peptide complexes in hurler's syndrome. Biochemical Medicine 3:5, pages 404-413.
Crossref
B.A. Gordon & M. Daria Haust. (1970) The mucopolysaccharidoses types I, II and III: Urinary findings in 23 cases. Clinical Biochemistry 3, pages 203-215.
Crossref
Victor A. McKusick. (1969) The nosology of the mucopolysaccharidoses. The American Journal of Medicine 47:5, pages 730-747.
Crossref
David Kaplan. (1969) Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria. The American Journal of Medicine 47:5, pages 721-729.
Crossref
Albert Dorfman & Reuben Matalon. (1969) The Hurler and Hunter syndromes. The American Journal of Medicine 47:5, pages 691-707.
Crossref
Alexander G. Bearn. (1969) Foreword. The American Journal of Medicine 47:5, pages 661-663.
Crossref
John E. Gerich. (1969) Hunter's Syndrome. New England Journal of Medicine 280:15, pages 799-802.
Crossref
Per-Arne Öckerman. (1969) DISEASES OF GLYCOPROTEIN STORAGE. The Lancet 293:7597, pages 734.
Crossref
FrederickP Siegal & JohnJ Ouellette. (1969) PROTECTING PIGEON-HANDLERS. The Lancet 293:7597, pages 733-734.
Crossref
M.Daria Haust, Manuel Orizaga, Alex M. Bryans & Harold F. Frank. (1969) The fine structure of liver in children with hurler's syndrome. Experimental and Molecular Pathology 10:2, pages 141-161.
Crossref
Gillian A. Blackham & D. N. Raine. (2016) The Biochemistry of the Mucopolysaccharidoses. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 6:2, pages 49-54.
Crossref
F. van Hoof & H. G. Hers. (2005) The Abnormalities of Lysosomal Enzymes in Mucopolysaccharidoses. European Journal of Biochemistry 7:1, pages 34-44.
Crossref
David G. Gardner. (1968) Metachromatic cells in the gingiva in Hurler's syndrome. Oral Surgery, Oral Medicine, Oral Pathology 26:6, pages 782-789.
Crossref
P. G. PROCOPIS, B. TURNER, J. T. RUXTON & D. A. BROWN. (2008) SCREENING TESTS FOR MUCOPOLYSACCHARIDOSIS. Journal of Intellectual Disability Research 12:1, pages 13-17.
Crossref
Hugo Althoff, Hans Günther Claus, Hans Etter, Wilfried Gassmann, Giorgio Giovannelli, Hans Gött, Erich Hässler, Albert Laur, Wolfgang Marquardt, Eyvind Mosekilde, Franco Perassi, Rüdiger Seyss, F. Sommer, Ekkehard Störig, Giulio Tori, Arthur Uehlinger, Konrad Weiss & Helmut WeyersW. Marquardt. 1968. Röntgendiagnostik der Skeleterkrankungen Teil 3 / Diseases of the Skeletal System (Roentgen Diagnosis) Part 3. Röntgendiagnostik der Skeleterkrankungen Teil 3 / Diseases of the Skeletal System (Roentgen Diagnosis) Part 3 14 44 .
Hugo Althoff, Hans Günther Claus, Hans Etter, Wilfried Gassmann, Giorgio Giovannelli, Hans Gött, Erich Hässler, Albert Laur, Wolfgang Marquardt, Eyvind Mosekilde, Franco Perassi, Rüdiger Seyss, F. Sommer, Ekkehard Störig, Giulio Tori, Arthur Uehlinger, Konrad Weiss & Helmut WeyersE. Häßler. 1968. Röntgendiagnostik der Skeleterkrankungen Teil 3 / Diseases of the Skeletal System (Roentgen Diagnosis) Part 3. Röntgendiagnostik der Skeleterkrankungen Teil 3 / Diseases of the Skeletal System (Roentgen Diagnosis) Part 3 306 389 .
B.Shannon Danes & AlexanderG. Bearn. (1967) THE EFFECT OF RETINOL (VITAMIN-A ALCOHOL) ON URINARY EXCRETION OF MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME. The Lancet 289:7498, pages 1029-1031.
Crossref
Frank Henry StellingIIIIII. (1967) General Affections of the Skeletal System: Bone Dysplasias, Dystrophies and Dysostoses. Pediatric Clinics of North America 14:2, pages 359-396.
Crossref
J. Clausen, H. V. Dyggve, J. C. Melchior & H. O. Lou. (1967) Chemical studies in gargoylism.. Archives of Disease in Childhood 42:221, pages 62-69.
Crossref
G. Schettler & W. Kahlke. 1967. Lipids and Lipidoses. Lipids and Lipidoses 213 259 .
W. Fuhrmann. 1967. Lipids and Lipidoses. Lipids and Lipidoses 490 528 .
Rusell J. Blattner. (1966) Hurler's syndrome. The Journal of Pediatrics 69:2, pages 313-315.
Crossref
Stanley M. Bierman, Thomas Edgington, Victor D. Newcomer & Carl M. Pearson. (2005) A disorder of mucopolysaccharide metabolism with articular, respiratory, and neurologic manifestations. Arthritis & Rheumatism 9:4, pages 620-630.
Crossref
Owen M. Rennert & Anatole S. Dekahan. (1966) Amino acid metabolism in patients with Hurler's syndrome. Metabolism 15:5, pages 429-435.
Crossref
Leonard O. LangerJr.Jr., Richard S. Kronenberg & Robert J. Gorlin. (1966) A case simulating hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria. The American Journal of Medicine 40:3, pages 448-457.
Crossref
David Wise. 1966. Vererbung von Hautkrankheiten. Vererbung von Hautkrankheiten 467 532 .
Judith Knecht & Albert Dorfman. (1965) Structure of heparitin sulfate in tissues of the Hurler syndrome. Biochemical and Biophysical Research Communications 21:5, pages 509-515.
Crossref
N. L. Sharma, R. N. Singh & J. S. Anand. (1965) Hurler’s syndrome. The Indian Journal of Pediatrics 32:9, pages 301-306.
Crossref
B. Shannon Danes & Alexander G. Bearn. (1965) Hurler's Syndrome: Demonstration of an Inherited Disorder of Connective Tissue in Cell Culture. Science 149:3687, pages 987-989.
Crossref
J.C. Nielchior, J. Clausen & H.V. Dyggve. (2016) The Mucopolysaccharidoses. Clinical Pediatrics 4:8, pages 468-480.
Crossref
Ingemar Bergg?rd & Alexander G. Bearn. (1965) The Hurler syndrome. The American Journal of Medicine 39:2, pages 221-229.
Crossref
Gerald S. Berenson & Edward R. DalferesJr.Jr.. (1965) Urinary excretion of mucopolysaccharides in normal individuals and in the marfan syndrome. Biochimica et Biophysica Acta (BBA) - Mucoproteins and Mucopolysaccharides 101:2, pages 183-192.
Crossref
H.G. Hers. (1965) Inborn Lysosomal Diseases. Gastroenterology 48:5, pages 625-633.
Crossref
David Yi-Yung Hsia, Margaret E. O'Flynn & Harvey White. (1965) Hereditary Metabolic Diseases of Bones and Joints. Medical Clinics of North America 49:1, pages 259-283.
Crossref
. 1965. Distribution and Biological Role. Distribution and Biological Role 463 563 .
Y. Uchimura, Y. Toshima & T. Sekiya. (1965) Zur elektronenmikroskopischen Pathomorphologie der Hirnrinde bei Gargoylismus. Acta Neuropathologica 4:5, pages 476-490.
Crossref
G. Asboe-Hansen & J. Clausen. (1964) Urinary Excretion of Acid Mucopolysaccharides in Twelve Cases of Mastocytosis (Urticaria Pigmentosa)**From the Department of Dermatology and Venereology, Rigshospital and the Department of Biochemistry, University of Copenhagen, Denmark.. Journal of Investigative Dermatology 43:1, pages 81-85.
Crossref
Robert C. Curran. 1964. 149 212 .
Helen Muir. 1964. 101 154 .
Siddharth K. Khetarpal & G. S. Sarin. (1964) Gargoylism. The Indian Journal of Pediatrics 31:1, pages 21-23.
Crossref
J. G. H. Schmidt. (1964) �ber Netzhaut-Ganglioside*. Albrecht von Graefes Archiv f�r Ophthalmologie 167:4, pages 336-354.
Crossref
J. Clausen, H. V. Dyggve & J. C. Melchior. (1963) Mucopolysaccharidosis: Paper Electrophoretic and Infra-Red Analysis of the Urine in Gargoylism and Morquio-Ullrich's Disease. Archives of Disease in Childhood 38:200, pages 364-374.
Crossref
R A Cawson. (2016) The Oral Changes in Gargoylism. Proceedings of the Royal Society of Medicine 55:12, pages 1066-1070.
Crossref
S.K. Abul-Haj, Douglas G. Martz, William F. Douglas & Leo J. Geppert. (1962) Farber's disease. The Journal of Pediatrics 61:2, pages 221-232.
Crossref
Sanford R. Gifford, Harold G. Scheie, George W. HambrickJr.Jr. & Lewis A. Barness. (1962) A Newly Recognized Forme Fruste of Hurler's Disease (Gargoylism)* *From the Departments of Ophthalmology, Dermatology, and Pediatrics, Hospital of the University of Pennsylvania, Children's Hospital of Philadelphia, and University of Pennsylvania Medical School.. American Journal of Ophthalmology 53:5, pages 753-769.
Crossref
Masanobu Kitagawa, Hiroshi Nishimura & Akira Makita. (1962) GARGOYLISM AND AMAUROTIC FAMILY IDIOCY. Pathology International 12:2, pages 129-154.
Crossref
Claus Munk Plum & H. P. Stubbe-Teglbjaerg†. (2009) CYTOLOGICAL, HISTOCHEMICAL AND BIOCHEMICAL STUDIES OF AMAUROTIC FAMILY IDIOCY. Acta Neurologica Scandinavica 37:4, pages 243-281.
Crossref
H. Zellweger, I.V. Ponseti, V. Pedrini, F.S. Stamler & G.K. von Noorden. (1961) Morquio-Ullrich's disease. The Journal of Pediatrics 59:4, pages 549-561.
Crossref
Karl Meyer & Philip Hoffman. (2005) Hurler's syndrome. Arthritis & Rheumatism 4:5, pages 552-560.
Crossref
Erik Hansen, Steen Olsen & C. Munk Plum. (2009) HEREDITARY PROGRESSIVE CEREBRAL LEUCODYSTROPHY. Acta Neurologica Scandinavica 37:3, pages 208-230.
Crossref
Erna Christensen, Johannes C. Melchior & Silvio Negri. (2009) A COMPARATIVE STUDY OF 16 CASES OF DIFFUSE SCLEROSIS WITH SPECIAL REFERENCE TO THE HISTOPATHOLOGICAL FINDINGS. Acta Neurologica Scandinavica 37:3, pages 163-207.
Crossref
URSULA MITTWOCH. (1961) Inclusions of Mucopolysaccharide in the Lymphocytes of Patients with Gargoylism. Nature 191:4795, pages 1315-1316.
Crossref
Andrew E. Lorincz. (1961) HERITABLE DISORDERS OF ACID MUCOPOLYSACCHARIDE METABOLISM IN HUMANS AND IN SNORTER DWARF CATTLE*. Annals of the New York Academy of Sciences 91:3, pages 644-658.
Crossref
John K. Finley. (2016) The Disorder of Fat Transport in Diabetes Mellitus, Its Significance and Correction. Angiology 12:4, pages 127-129.
Crossref
Ralf Schnabel. (1961) Histochemische und biochemische Untersuchungen beim Gargoylismus (Pfaundler-Hurler-Syndrom). Virchows Archiv f�r Pathologische Anatomie und Physiologie und f�r Klinische Medizin 334:5, pages 379-398.
Crossref
W. Wechsler & H. Hager. (1961) Elektronenmikroskopische Untersuchungen bei myotonischer Muskeldystrophie. Archiv f�r Psychiatrie und Nervenkrankheiten Vereinigt mit Zeitschrift f�r die Gesamte Neurologie und Psychiatrie 201:6, pages 668-690.
Crossref
Joan Slack, Kenneth Simpson & David Yi-Yung Hsia. (1960) Hereditary Metabolic Disorders Involving the Nervous System. Pediatric Clinics of North America 7:3, pages 627-663.
Crossref
BENGT HAGBERG, PATRICK SOURANDER, LARS SVENNERHOLM & HENRIK VOSS. (2008) Late Infantile Metachromatic Leucodystrophy of the Genetic Type. Acta Paediatrica 49:2, pages 135-153.
Crossref
J. François, F. Barbier & A. De Rouck. (2014) Les conducteurs du gène de l'atrophia gyrata chorioideae et retinae de Fuchs (anomalie d'Aider) . Acta geneticae medicae et gemellologiae 9:1, pages 74-91.
Crossref
J. G. H. Schmidt. (1960) �ber den Neuramins�uregehalt verschiedener S�ugetieraugen. Albrecht von Graefes Archiv f�r Ophthalmologie Vereinigt mit Archiv f�r Augenheilkunde 162:1, pages 34-47.
Crossref
A. Tingey. (2006) THE RESULTS OF GLYCOLIPID ANALYSIS IN CERTAIN TYPES OF LIPIDOSIS AND LEUCODYSTROPHY. Journal of Neurochemistry 3:3, pages 230-237.
Crossref
J.H. Quastel & P.G. Scholefield. (1958) Biochemical aspects of cerebral dysfunction. The American Journal of Medicine 25:3, pages 420-429.
Crossref
S. B. Griffiths & M. Findlay. (1958) Gargoylism: Clinical, Radiological and Haematological Features in Two Siblings. Archives of Disease in Childhood 33:169, pages 229-234.
Crossref
F. Seitelberger, G. Vogel & H. Stepan. (1957) Sp�tinfantile amaurotische Idiotie. Archiv f�r Psychiatrie und Nervenkrankheiten Vereinigt mit Zeitschrift f�r die Gesamte Neurologie und Psychiatrie 196:2, pages 154-190.
Crossref
Georg Friedrich. 1957. Erkrankungen des zentralen Nervensystems I. Erkrankungen des zentralen Nervensystems I 540 588 .
Paul Bernd DiezelPaul Bernd Diezel. 1957. Die Stoffwechselstörungen der Sphingolipoide. Die Stoffwechselstörungen der Sphingolipoide 162 178 .
Paul Bernd DiezelPaul Bernd Diezel. 1957. Die Stoffwechselstörungen der Sphingolipoide. Die Stoffwechselstörungen der Sphingolipoide 49 94 .
R. L. Bishton, R. M. Norman & A. Tingey. (1956) The Pathology and Chemistry of a Case of Gargoylism. Journal of Clinical Pathology 9:4, pages 305-315.
Crossref
Victor A. McKusick. (1956) Heritable disorders of connective tissue. Journal of Chronic Diseases 3:4, pages 360-389.
Crossref
F. Feyrter. (1956) �ber die chromotrope K�rnelung der Leiberzellen. Virchows Archiv f�r Pathologische Anatomie und Physiologie und f�r Klinische Medizin 328:4, pages 364-377.
Crossref
Heinrich Bergstermann. 1956. Ergebnisse der Inneren Medizin und Kinderheilkunde. Ergebnisse der Inneren Medizin und Kinderheilkunde 1 25 .
. (1955) High-humidity Rooms in Children's Hospitals. The Lancet 266:6889, pages 542-543.
Crossref
. (1955) " Letterer-Christian " Disease. The Lancet 266:6889, pages 541-542.
Crossref
D. Klein, A. Franceschetti & J. Babel. (1955) Les manifestation oculaires des troubles primitifs du metabolisme des lipides: Étude clinique, génétique et anatomo-pathologique. Arquivos de Neuro-Psiquiatria 13:2, pages 69-160.
Crossref
Th. Hirsch & J. Peiffer. (1955) �ber histologische Methoden in der Differentialdiagnose von Leukodystrophien und Lipoidosen. Archiv f�r Psychiatrie und Nervenkrankheiten Vereinigt mit Zeitschrift f�r die Gesamte Neurologie und Psychiatrie 194:1, pages 88-104.
Crossref
Paul Bernd Diezel. (1954) Histochemische Untersuchungen an primären Lipoidosen: Amaurotische Idiotie, Gargoylismus, Niemann-Picksche Krankheit, Gauchersche Krankheit, mit besonderer Berücksichtigung des Zentralnervensystems. Virchows Archiv für Pathologische Anatomie und Physiologie und für Klinische Medizin 326:1, pages 89-118.
Crossref
I. M. P. Dawson. (2005) The histology and histochemistry of gargoylism. The Journal of Pathology and Bacteriology 67:2, pages 587-604.
Crossref
H. G. Wolf. (1954) Zur Frage der Alder-Anomalie der Leukocyten. Zeitschrift f�r Kinderheilkunde 75:1, pages 27-36.
Crossref
Otto Ullrich & Hans-Rudolf Wiedemann. (1953) Zur Frage der konstitutionellen Granulationsanomalien der Leukocyten in ihrer Beziehung zu enchondralen Dysostosen. Klinische Wochenschrift 31:5-6, pages 107-115.
Crossref
S. VAN CREVELD. (1953) The Lipoidoses. Advances in Pediatrics 6:1, pages 190-248.
Crossref
Julius Hallervorden. 1953. Neurologie. Neurologie 3415 3512 .
STlG SJÖLIN & TORD SKOOG. (1952) The Claw Hand in Gargoylism, its Pathology and Treatment. Acta Paediatrica 41:6, pages 563-573.
Crossref
A.B. Schwartz. (1952) Current pediatric references. The Journal of Pediatrics 41:2, pages 13-24.
Crossref

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