61. International Society For Mannosidosis & Related Diseases, Inc.: National Instit The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical research on disorders of the brain and nervous http://www.ninds.nih.gov/find_people/voluntary_orgs/volorg859.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations Professional Societies Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Find People Voluntary Organizations Organization Contact Information 1030 Saxon Hill Drive Cockeysville, MD 21030 Tel: 410-628-9991 EMail: info@mannosidosis.org http://www.mannosidosis.org Description: Organizations such as this one may focus on information, research, fundraising, advocacy and awareness programs, rehabilitation, or patient support. They are not part of the Federal Government and they may not be tax-exempt. National Institute of Neurological Disorders and Stroke Home About NINDS Disorders Funding ... Accessibility

62. 2001-Riise Stensland-NOVEL MUTATIONS AND HAPLOTYPE ANALYSIS IN ALPHA-MANNOSIDOSI NOVEL MUTATIONS AND HAPLOTYPE ANALYSIS IN ALPHAmannosidosis. Hilde MF Riise Stensland1, Helle Klenow1, Dag Malm2, Ole K Tollersrud3 and Øivind Nilssen1. http://www.biolchem.ucla.edu/mps/01therapy/abstracts/RiiseStenslandH.htm

NOVEL MUTATIONS AND HAPLOTYPE ANALYSIS IN ALPHA-MANNOSIDOSIS. Hilde MF Riise Stensland , Helle Klenow , Dag Malm , Ole K Tollersrud Departments of Medical Genetics Internal Medicine, Universital Hospital of Tromso, Tromso, Norway and Department of Medical Biochemistry, University of Tromso, Tromso, Norway. (hriise@mednet.ucla.edu Lysosomal alpha-mannosidase (LAMAN, EC 3.2.1.24) is an exoglycosidase involved in the ordered degradation of N-linked oligosaccharides. Lack of LAMAN activity leads to the lysosomal storage disorder alpha-mannosidosis (MIM 248500), an autosomal recessive disorder described in man, cattle, cat and guinea pigs. Affected individuals accumulate partially degraded oligosaccharides in the lysosomes, and typical symptoms in man are mental retardation, hearing loss, recurrent infections and various skeletal changes. We have earlier reported 23 disease causing mutations in the LAMAN gene of 42 unrelated alpha-mannosidosis patients. Here we have analysed additional 43 unrelated patients by screening for known mutations and by sequencing of the 24 LAMAN exons as well as the exon-intron borders. Thirtythree novel mutations; 9 missense, 8 nonsense, 5 splice site and 11 small insertions/deletions, were identified. In total, the 56 mutations were detected on 159 of the 170 alleles (93.5 %). Most of the mutations were private or occurred in 2-3 families, except for one missense mutation, R750W, that was detected in patients from 12 different countries, and present on 55 unrelated alleles (32.3 %). Haplotype analysis using 4 intragenic SNPs revealed that the 750W allele existed on 3 different haplotypes. The majority of the alleles where the phase could be determined (36 of 40, 90 %) shared the same haplotype, indicating that the 750W mutation probably spread by migration and founder effect. The 2 other associated haplotypes could have emerged from the ancestral haplotype by single recombinatorial events or, alternatively, resulted from recurrent mutational events.

63. AnyWho: Internet Directory Assistance; Yellow Pages, White Pages, Toll-Free Numb Birth Disorder Information Directory AAlpha-mannosidosis (Lysosomal Alpha-D-Mannosidase Deficiency; mannosidosis, Alpha B, Lysomal). mannosidosis Alpha-mannosidosis International Society http://www.anywho.com/cgi-bin/webdrill?catkey=gwd/Top/Health/Conditions_and_Dise

64. Mannosidosis: Isolation And Comparison Of Mannose-containing Oligosaccharides Fr mannosidosis isolation and comparison of mannosecontaining oligosaccharides from gingiva and urine. PF Daniel, DF Defeudis and IT Lott http://content.febsjournal.org/cgi/content/abstract/114/2/235

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Daniel, P. F. Articles by Lott, I. T. ARTICLES Mannosidosis: isolation and comparison of mannose-containing oligosaccharides from gingiva and urine PF Daniel, DF Defeudis and IT Lott Excessive gingival hyperplasia with storage of mannose-rich oligosaccharides appears to be a unique feature present in a 31-year- old mannosidosis patient. Fractionation and analysis of the gingiva established the presence of (Man)2GlcNAc (2.2 mumol/g), (Man)3GlcNAc (3.5 mumol/g), (Man)4GlcNAc (2.8 mumol/g) and higher oligomers (Man)5GlcNAc(Man)8GlcNAc (0.5 mumol/g); (Man, mannose; GlcNAc, N- acetylglucosamine). Eight characteristic oligosaccharides were isolated from the patient's urine by thin-layer chromatography. The most abundant was (Man)2GlcNAc (161558 mumol/l); decreasing amounts of higher homologues up to a dekasaccharide

65. The Turkish Journal Of Pediatrics Alphamannosidosis and mutational analysis in a Turkish patient We present a case of alpha-mannosidosis with its mutational analysis. http://tjp.dergisi.org/text.php3?id=34

66. Matnat-kjemi - Strukturkjemi results in inherited lysosomal storage disorder alphamannosidosis (OMIM 248500). The phenotypic response in the lysosomal alpha-mannosidosis is often http://uit.no/kjemi/strukturkjemi/?SubjectId=68&FromSubject=0

67. Beta-mannosidosis Treatment mannosidosis Assignment of the Lysosomal alpha mannosidase B Human mannosidosis, an inherited glycoprotein storage disorder, Since mannosidosis is believed to result from a structural defect in alpha -mannosidase http://www.overcome-diabetes.com/beta-mannosidosis.htm

Index Affiliate Free Health Info Contact Us ... In association with Amazon.com Baby Books Classical Music Computers DVD Electronics Magazines Outdoor Living Popular Music Software Video Get the latest health info delivered directly to your inbox! Name: Email: Incurable Disease Acute Lymphocytic Leukemia Acute Myeloid Leukemia AIDS Alzhiemers ... zollinger ellison syndrome Cancer anal bile duct bladder bone ... womb HIV / AIDS AIDS acute HIV HIV early HIV Heart Diseases arrhythmias cardiogenic shock cardiomyopathy endocarditis ... ventricular tachycardia Diabetes diabetes ketoacidosis nephropathy neuropathy ... type 2 Communication Disorder amblyopia aphasia autism cataracts ... hearing loss Dental Care dental caries gingivitis oral cancer periodontal disease ... toothache Hair Loss female male hair loss var sc_project=350281; var sc_partition=1; var sc_invisible=1; Bookmark Us! - Press CTRL+D Beta- Mannosidosis 50-90% OFF BookCloseOuts Treatment Overview Bone Marrow Transplant (BMT): For some years Bone Marrow Transplants (BMT) have been used to treat children with Mucopolysaccharide and related diseases. Some children with Mannosidosis have benefited from Bone Marrow Transplant, although this has not been shown to have any effect on preventing the damage to the brain that occurs in individuals severely affected by Mannosidosis.

68. Bone Marrow Transplantation In The Treatment Of Alpha-mannosidosis -- Will Et Al Efficacy of enzyme replacement therapy in {alpha}mannosidosis mice a preclinical animal study Hum. Mol. Genet., September 15, 2004; 13(18) 1979 - 1988. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;62/10/1044

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Will, A Articles by Stevens, R. PAPERS Bone marrow transplantation in the treatment of alpha-mannosidosis A Will, A Cooper, C Hatton, IB Sardharwalla, DI Evans and RF Stevens Department of Haematology, Royal Manchester Children's Hospital. Bone marrow transplantation was performed in a patient with alpha- mannosidosis. To our knowledge this is the first time such treatment has been attempted. The patient died 18 weeks after successful grafting and specimens of tissues were obtained at necropsy. Alpha-mannosidase activity

69. Mannosidosis. Clinical And Biochemical Study -- Milla Et Al. 52 (12): 937 -- Arc mannosidosis. Clinical and biochemical study The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;52/12/937

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Milla, P. Articles by Oberholzer, V PAPERS Mannosidosis. Clinical and biochemical study PJ Milla, IE Black, AD Patrick, K Hugh-Jones and V Oberholzer The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. Superficially they appeared to suffer from Hurler's syndrome, but the facies, eye signs, radiological and cytological features were atypical. Excess urinary oligosaccharides were found by thin-layer chromatography. The diagnosis was confirmed by determining the

70. Diagnosis Of Alpha-mannosidosis By Measuring Alpha-mannosidase In Plasma -- Pren alphamannosidosis is a lysosomal storage disease resulting from a deficiency of Diagnosis of alpha- mannosidosis has traditionally been accomplished by http://www.clinchem.org/cgi/content/abstract/38/4/501

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Clinical Chemistry This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Prence, E. M. Articles by Natowicz, M. R. Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma EM Prence and MR Natowicz Division of Medical Genetics, Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA 02254. alpha-Mannosidosis is a lysosomal storage disease resulting from a deficiency of lysosomal alpha-mannosidase activity. Diagnosis of alpha- mannosidosis has traditionally been accomplished by demonstrating reduced alpha-mannosidase activity in leukocytes. We describe a new assay of alpha-mannosidase in serum or plasma that allows specific detection of the enzyme deficiency in alpha-mannosidosis with small, easily obtained sample

71. Diagnosis Of Alpha-mannosidosis By Measuring Alpha-mannosidase In Plasma -- Pren http://www.clinchem.org/cgi/reprint/38/4/501

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72. Mannosidosis - Definition Of Mannosidosis In The Medical Dictionary - By The Fre www.allshowcase.com/Health_and_Fitness/Conditions_ www.webstersonline-dictionary.org/definition/engl Enzyme replacement therapyan experiment of nature in a chimeric Enzyme replacement therapy was studied in a chimeric mannosidosis calf which had received a natural transplacental transplant of normal lymphocytes from its http://medical-dictionary.thefreedictionary.com/mannosidosis

Domain='thefreedictionary.com' word='mannosidosis' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia mannosidosis 0.01 sec. Page tools Printer friendly Cite / link Email Feedback man·no·si·do·sis (m n -s -d s s) n. An inherited disorder caused by the deficiency of an enzyme necessary for the metabolism of mannose and characterized by mental retardation, kyphosis, and an enlarged tongue, with the accumulation of mannose in the body tissues. Mentioned in No references found Medical browser Full browser manifestation manifesting heterozygote manipulate manipulation ... mannose mannosidosis manometer Manson Manson's disease Mansonella ... Mannose-Sensitive Hemagglutinin mannosidosis Mannou, Kagawa Manns Choice, PA Manns Choice, Pennsylvania Mannschafts-Transport-Wagen (German armored personnel carrier) ... Manny Pacquiao Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

73. Intermediate Golgi Alpha-D-mannosidosis And Mucolipidosis II And III -- Andria A We have examined extracts of fibroblasts from patients with mannosidosis, mucolipidosis (ML) II, ML III, and normal controls for alphaD-mannosidase http://www.pedresearch.org/cgi/content/abstract/15/1/70

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Andria, G. Articles by Sly, W. S. ARTICLES Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III G Andria and WS Sly We have examined extracts of fibroblasts from patients with mannosidosis, mucolipidosis (ML) II, ML III, and normal controls for alpha-D-mannosidase activity against 4-methylumbelliferyl-alpha-D- mannopyranoside to test for the presence of the "intermediate" pH 5.5 enzyme activity that has been called the "Golgi mannosidase." Fibroblast extracts were prepared by sonication and sedimented to separate membrane-associated activities from cytosolic and lysosomal alpha-D-mannosidases. Membranes were extracted by

74. Adult {alpha}-mannosidosis: Clinical Progression In The Absence Of Demyelination {alpha} mannosidosis is an inherited lysosomal storage disease. It appears that the disabling course of adult {alpha} -mannosidosis is caused by http://www.neurology.org/cgi/content/abstract/63/9/1744

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Gutschalk, A. Articles by Meinck, H-M. Related Collections MRI Metabolic disease (inherited) NEUROLOGY 2004;63:1744-1746 American Academy of Neurology Brief Communications Adult -mannosidosis Clinical progression in the absence of demyelination A. Gutschalk, MD I. Harting, MD M. Cantz, MD C. Springer, MD K. Rohrschneider, MD and H-M. Meinck, MD From the Departments of Neurology (Drs. Gutschalk and Meinck), Neuroradiology (Dr. Harting), Pathology (Dr. Cantz), and Ophthalmology (Drs. Springer and Rohrschneider), University of Heidelberg, Germany. Address correspondence and reprint requests to Dr. Alexander Gutschalk, Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114; e-mail: -Mannosidosis is an inherited lysosomal storage disease. The

75. Serum And Urinary Trisaccharides In Mannosidosis -- Lott And Daniel 31 (9): 1159 Serum and urinary trisaccharides in mannosidosis. IT Lott and PF Daniel. A trisaccharide, Man2glcNAc, was the most abundant urinary oligosaccharide (161558 http://www.neurology.org/cgi/content/abstract/31/9/1159

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Lott, I. T. Articles by Daniel, P. F. ARTICLES Serum and urinary trisaccharides in mannosidosis IT Lott and PF Daniel A trisaccharide, Man2glcNAc, was the most abundant urinary oligosaccharide (161-558 mumol per liter) in a patient with mannosidosis. By means of a newly developed high-performance liquid chromatography (HPLC) procedure, we were able to measure low levels of serum trisaccharide (0.10.4 nmol per milliliter). This is the first report of the measurements of serum oligosaccharides in mannosidosis. Our observations on the disparate relationship between serum and urinary concentrations of this trisaccharide suggest that a facilitated renal clearance of oligosaccharides may be related to the nonprogressive aspect of this disorder.

76. Dmoz.fr/Health/Conditions_and_Diseases/Genetic_Dis mannosidosis assignment of the lysosomal alphamannosidase B gene Human mannosidosis, an inherited glycoprotein storage disorder, has been associated Since mannosidosis is believed to result from a structural defect in http://dmoz.fr/Health/Conditions_and_Diseases/Genetic_Disorders/Mannosidosis/

77. Tim And Hollie's Story Their condition was not correctly identified as Alpha mannosidosis until they The diagnosis of Alphamannosidosis was confirmed when tissue samples were http://www.ldnz.org.nz/TimandHolliesStory.htm

Timothy and Hollie Forman A brief history of the Forman family and their dealings with Mannosidosis April 1999 Our son and daughter, Timothy and Hollie are twins, born 14 November 1974. They were premature (about one month). There were some early indicators that it was more than just a rough start for them, but nothing really clear till they were about one year old and a number of milestones were not met on time. A fter another year or two the doctors first diagnosed their condition as Mucopolysaccharidosis Hurler/Scheie. Their condition was not correctly identified as Alpha Mannosidosis until they were 15 years old and blood samples and skin fibroblast cultures were tested in Adelaide Children’s hospital. In the early years there was a series of regular respiratory infections and ENT problems. Grommet tubes were inserted in their eardrums several times, and tonsils and adenoids removed to ease things for them. Fortunately these problems did reduce in frequency and severity over time. They both have a moderate bilateral hearing loss and use hearing aids to compensate for this. Their mobility was slightly compromised as youngsters by a mildly unsteady walking gait, and this has become more significant over time. Tim was able to ride a bike till he was about 18 years old, but had increasing co-ordination problems and had to give it up due to frequent falls. He continued with Special Olympics and has taken part in soccer, basketball, athletics, and indoor bowls, but his co-ordination problems have made it difficult for him to continue with active sports, and he gave these up at age 23. Hollie’s mobility was badly affected by a serious arthritis problem, which started in her left hip at about 10 or 11 years of age. It was clearly a direct effect of the mannosisodis, as we were to eventually discover, though didn’t know at the time.

78. John's Journal Issue 4 My role on the Board of the International Society for mannosidosis and related Diseases is that of AsiaPacific Co-ordinator, and I m keen to fill that role http://www.ldnz.org.nz/LDNZJohnsJournal5.htm

Back to Newsletter Index John's Journal - Issue 5 This journal is a diary of John Forman's efforts to promote research and improvements to information and clinical care for Lysosomal Storage disorders, and to develop the support group, LDNZ. It is written as a record of events and contacts, and to assist those who may wish to pursue any interest in the disorders by informing them faster of what has been done, and who is doing what. March 2000 - August 2000. Planning, Publicity, Promotion and Perseverance March 2000 More networking with Lysosomal Disease contacts. Time in Christchurch after a conference gave me time to meet with Dr Dave Palmer and his research team at Lincoln University, meet the famous Batten sheep and view some of the team's slides through an electron microscope. Seeing the florescent markers on tiny parts of affected brain anatomy, is a sobering lesson about our vulnerability to the least of variations in our genetic makeup. Rachel and Michael Burke kindly put me up for the night, and over a fine dinner accompanied by fine wine and followed by an excellent single malt, I had the honour to hear the story of this couple and their experiences with two children with Sanfilippo B disease. Isolation, delayed diagnosis and a general lack of knowledge on the part of those who were best placed to know, meant an incredibly tough time for this amazing couple through the 80's and onwards, as they struggled to understand what was happening to Reuben and Joseph. Despite their burden and the loss of Reuben several years ago, Rachel and Michael did early work to set up the NZ MPS Society and have maintained family, careers and community involvement. Their experience, energy and resilience are an inspiration. I salute you both.

79. The Radiographic Features Of Mannosidosis -- Spranger Et Al. 119 (2): 401 -- Rad Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hookshaped deformity of the http://radiology.rsnajnls.org/cgi/content/abstract/119/2/401

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Spranger, J. Articles by Cantz, M. ARTICLES The radiographic features of mannosidosis J Spranger, J Gehler and M Cantz Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.

80. Transplantation - Fulltext: Volume 61(11) June 15, 1996 P 1654,1655 RENAL TRANSP mannosidosis is an inherited autosomal recessive mucopolysaccharidosis. A case of type II mannosidosis with endstage renal failure is reported. http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-1996061

LWWOnline LOGIN eALERTS REGISTER ... Archive RENAL TRANSPLANTATION IN A CASE... ARTICLE LINKS: Abstract References (8) View full size inline images Transplantation Volume 61(11) 15 June 1996 p 16541655 RENAL TRANSPLANTATION IN A CASE OF MANNOSIDOSIS Segoloni, Giuseppe P. ; Colla, Loredana; Messina, Maria; Stratta, Piero Nephrology Department of Turin University, S. Giovanni Battista Hospital, C.so Bramante 88, 10126, Turin, Italy Address correspondence to: Giuseppe P. Segoloni, Nephrology Department, S. Giovanni Hospital, C.so Bramante 88, 10126, Turin, Italy. Received 7 August 1995. Accepted 4 January 1996. Article Outline Abstract DISCUSSION REFERENCES Citing Articles Abstract TOP Mannosidosis is an inherited autosomal recessive mucopolysaccharidosis. Patients affected accumulate mannose-rich compounds in various tissues and excrete an increased quantity of oligosaccharides with mannose as a component A case of type II mannosidosis with end-stage renal failure is reported. The patient, after 6 years of regular hemodialysis treatment, received a kidney transplant. At the time this article was written, the graft was functioning well and thesaurismotic renal deposits had not been observed. The clinical course of mannosidosis was silent and the patient's quality of life was good Although the risk of recurrence could not be excluded, it seems that renal transplantation can be safely offered to patients affected with mannosidosis type II, in the rare setting of chronic renal failure

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