1. National Niemann-Pick Disease Foundation National niemannpick Disease Foundation, Inc. Is a child These symptoms may be an indication of niemann-pick Disease. Chances are you http://www.nnpdf.org/

National Niemann-Pick Disease Foundation, Inc. Is a child you know experiencing some or all of these symptoms? jaundice following birth abdominal enlargement progressive loss of early motor skills feeding and swallowing difficulties vertical eye movement difficulties enlarged spleen or liver learning problems sudden loss of muscle tone slurred speech seizures hypersensitivity to touch These symptoms may be an indication of Niemann-Pick Disease. Chances are you haven't heard all that much about Niemann-Pick Disease. It's a rare disease, but maybe not as rare as we think. You see, many times diagnosis is difficult. By reviewing the information in this Website, you can become better informed about this disease and spread the word to others. Go to Index Get your summer reading and help NNPDF fund research at James Brown, NNPDF National Spokesperson and Fox Sportscaster, recently filmed public service announcements to raise awareness about Niemann-Pick. Click below to see the index for each topic The Disease The Foundation The Research The People ... Complete Index Click below to view a specific page News Line Family Conference Contact Us Search the Site ... Membership Application Organizations providing continuing support to NNPDF HFTP Gold Coast Chapter Tomorrow's Hope Genzyme Corp.

2. NINDS Niemann-Pick Disease Information Page More about niemannpick Disease, Studies with patients, Research literature, Press releases, NINDS niemann-pick Disease Information Page Reviewed 5-27-2003 http://www.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Niemann-Pick Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Niemann-Pick Disease Information Page Reviewed 5-27-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Niemann-Pick disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Niemann-Pick disease? Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some people, the brain. The disease is subdivided into 4 related types. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.

3. International Center For Types A And B Niemann-Pick Disease - Mount Sinai School Provides information on the prevention and treatment of this disorder for patients, physicians and scientists. http://www.mssm.edu/niemann-pick/

he International Center for Types A and B Niemann-Pick Disease was established to provide information and support for patients with Types A and B NPD, as well as to scientists and physicians interested in these disorders. It is a voluntary, not-for-profit organization whose primary goals are to: promote medical research into the cause and treatment of Types A and B NPD, provide medical and educational information to assist in the correct diagnosis and referral of children with NPD, provide support to families of children with NPD, facilitate genetic counseling for parents who are known carriers of NPD, and encourage the sharing of research information among scientists. Reaching the Center Department of Human Genetics Mount Sinai School of Medicine 1425 Madison Avenue New York, New York 10029 1-800-NPD-INTL (1-800-673-4685) Schedule a Visit We encourage all NPD patients to visit our Clinical Research Center (CRC) at Mount Sinai to get evaluated by our team of NPD experts. Generally, this involves a two- to three-day stay on the CRC, which is a special unit of the hospital designed for such clinical studies. Hospitalization and other medical costs for these visits are free. For additional information and to schedule a visit, please contact Ms. Charlene Pearlman (212-659-6779). the school mssm faculty mssm students mssm prospective students ... mssm home This site is maintained by the Web Development Office

4. Niemann-Pick Disease Group (UK) to include many new features to assist families in the United Kingdom in coping with niemannpick Disease. Visit our new site at http//www.niemannpick.org.uk http://www.nnpdf.org/npdg-uk/

The Niemann-Pick Disease Group (UK) is a registered charity within the United Kingdom providing information and support to families and professionals worldwide regarding all types of Niemann-Pick disease. The group provides a regular Newsletter and Telephone Helpline for members and families seeking assistance. In addition, the group sponsors an Annual Conference and Regional meetings. The Niemann-Pick Disease Group (UK) website has moved! Our website has been totally redesigned to include many new features to assist families in the United Kingdom in coping with Niemann-Pick Disease. Visit our new site at http://www.niemannpick.org.uk/ Please update your Bookmarks when you visit! NPDG (UK) Newsletter Volume 8.3 (Summer 2001) Volume 8.3 is a PDF format document which requires the use of the Adobe Reader to view. If you need the Reader or wish to upgrade, click on the graphic below. The Adobe Reader is provided at no charge. While a PDF format document is larger than regular web pages, it allows you to view all of the graphics and original formatting of the Newsletter. Volume 8.3 Contents

5. The NTSAD Diseases Family: Niemann-Pick Disease Today, there are three separate diseases that carry the name niemannpick Type A, Type B and Type C. The majority of the infants affected with the acute http://www.ntsad.org/pages/n-pick.htm

Niemann-Pick Disease IN 1914 ALBERT NIEMANN, A German pediatrician, described a young child with an enlarged liver and spleen, enlarged lymph glands, swelling and a darkening of the skin of the face. The child had brain and nervous system impairment and died in less than six months, before the age of two. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. T oday, there are three separate diseases that carry the name Niemann-Pick: Type A, Type B and Type C. The majority of the infants affected with the acute infantile form of Niemann-Pick described above (now called Type A) are of Ashkenazi Jewish ancestry. The less common Niemann-Pick disease, Type B, a chronic non-neurological form, shows the same ethnic predilection as Type A. It has been estimated that about 1/1000 Ashkenazi Jews is a carrier for one of these forms of Niemann-Pick Disease. Niemann-Pick Type C, a biochemically and genetically distinct from of the disease, does not show this ethnic predilection and occurs with similar frequency in all populations. I nfantile, or Type A, Niemann-Pick Disease occurs most frequently and it accounts for about 85% of all cases of the disease. Its effects begin in the first few months of life; by six months of age feeding difficulties, progressive loss of early motor skills and enlargement of the abdominal organs are usually present. Continued poor feeding causes children to take on an emaciated look accompanied by abdominal distension. Their skin may develop a brownish-yellow discoloration, and about one-third of affected children have a cherry-red spot in the eye similar to that found in children with Tay-Sachs Disease. There is progressive loss of motor and mental function and death usually occurs between two and three years of age.

6. Niemann-Pick Disease are three separate diseases that carry the name NiemannPick Type A is the acute infantile form, Type the major locus responsible for NiemannPick type C (NPC) was http://www.ncbi.nlm.nih.gov/disease/NP.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome 18 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Fact sheet from the National Institute of Neurological Disorders and Stroke, NIH National Niemann-Pick Disease Foundation an educational, support and fund-raising organization GeneClinics a medical genetics resource In 1914, GERMAN PEDIATRICIAN Albert Niemann described a young child with brain and nervous system impairment. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of a new disorder, distinct from those storage disorders previously described. Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease. Recently, the major locus responsible for Niemann-Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Usually, cellular cholesterol is imported into lysosomes - 'bags of enzymes' in the cell - for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.

7. Ziekte Van Niemann-Pick Informatie over deze zeldzame erfelijke aandoening. http://www.erfocentrum.nl/zena/niema.php

erfelijkheid.nl winkel mail ons nieuwsbrief ... sitemap ZIEKTEN EN AANDOENINGEN ERFELIJKHEID LITERATUUR (PARA)MEDICI Beginpagina ... Ziekten en aandoeningen Ziekte van Niemann-Pick Ziekte van Niemann-Pick Synoniemen Sfingomyeline Lipidose Sfingomyelinase Deficiëntie Korte beschrijving De ziekte van Niemann-Pick is een zeldzame erfelijke en aangeboren stofwisselingsziekte die valt onder de lysosomale stapelingsziekten. Lysosomale stapelingsziekten zijn aandoeningen waarbij er door een verandering in het erfelijk materiaal een stoornis is in de lysosomen. Lysosomen zijn kleine organen (organellen) in een cel, die met behulp van enzymen -enzymen begeleiden bepaalde chemische reacties- zorgen voor de afbraak en het hergebruik van veel stoffen. Het ontbreken of niet volledig functioneren van een van deze enzymen zorgt ervoor dat (afval)stoffen zich opstapelen in het lysosoom. Deze opeenstapeling is giftig voor de cel en bemoeilijkt daardoor het functioneren van het lysosoom, en uiteindelijk ook van de hele cel. Dit veroorzaakt ten slotte schade in weefsels en organen. Vanwege het ophopen van (afval)stoffen wordt over lysosomale stapelingsziekten gesproken. De ziekte van Niemann-Pick wordt veroorzaakt door het ontbreken van het enzym sfingomyelinase. Hierdoor ontstaat een stapeling van een bepaald type vetten, sfingolipiden, in verschillende organen. Er bestaan minstens vijf typen van de aandoening. Type A komt het meest voor. Symptomen zijn vergroting van de lever en milt, afwijkingen aan het centraal zenuwstelsel, en een vertraagde lichamelijke en verstandelijke ontwikkeling. Het opzetten van de buik, overgeven, diarree, koorts, en een bruin-gele verkleuring van de huid treden op rond zes maanden na de geboorte, waarna de aandoening langzaam verergert. De meeste kinderen met deze aandoening worden niet ouder dan drie jaar.

8. Ara Parseghian Medical Research Foundation About this foundation whose goal is to find a cure for the devastating niemannpick Type C disease. http://www.parseghian.org/apmrfweb/

Our Mission... The Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation, funds research projects that will lead to a treatment and cure for Niemann-Pick Type C disease. Recent News Information and Registration Form Schedule of Events 2004 Scientific Meeting A GOAL FOR LIFE Christmas 2003 The Newsletter of the Ara Parseghian Medical Research Foundation Niemann-Pick Type C Disease... Niemann-Pick Type C disease (NP-C) is a genetic, pediatric, neurodegenerative disorder. It is responsible for the build-up of cholesterol in such areas as the spleen and liver and for accumulation of gangliosides in the brain. This ganglioside build-up results in the eventual damage to the nervous system. This metabolic disorder leads to a series of neurological problems that are ultimately fatal. We Need Your Help!

9. EMedicine - Niemann-Pick Disease : Article By Margaret McGovern, MD, PhD Genetics And Metabolic Disease. niemannpick Disease. Last Updated June 6, 2002 Background niemann-pick disease (NPD) is a lipid storage disorder that results from the deficiency of http://www.emedicine.com/ped/topic2889.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Niemann-Pick Disease Last Updated: June 6, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, acid sphingomyelinase deficiency, enzyme deficiencies, neurodegenerative disease, failure to thrive, hepatosplenomegaly, sphingomyelin accumulation, lipid storage disorder, defective cholesterol metabolism, Niemann-Pick cells AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Margaret McGovern, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Mary L Windle, PharmD

10. Niemann-Pick Disease (Ludwig Pick) (www.whonamedit.com) niemannpick disease (Ludwig Pick) A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of the macula with progressive blindness, http://www.whonamedit.com/synd.cfm/1029.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Niemann-Pick disease (Ludwig Pick) Also known as: Crocker's syndrome Crocker-Farber syndrome Niemann's disease Pick's disease (Ludwig Pick) Synonyms: Essential lipoid histiocytosis, lipid histiocytosis, phosphatidolipoidosis, phosphatidosis, sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis. Associated persons: Allen C. Crocker Sidney Farber Albert Niemann Ludwig Pick Description: A hereditary, congenital syndrome with onset in early infancy. A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of the macula with progressive blindness, lymphadenopathy, and progressive mental and physical deterioration. Death usually occurs before the third year. Typical cell, having a foamy appearance and filled with a lipoid believed to be sphingomyelin, can be found in bone marrow, spleen, or lymph nodes and aids in establishing the diagnosis.

11. Niemann-Pick Disease a CHORUS notecard document about niemannpick disease Feedback. Search. niemann-pick disease. very rare abnormality of lipid metabolism http://chorus.rad.mcw.edu/doc/00647.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search Niemann-Pick disease very rare abnormality of lipid metabolism autosomal recessive, 50% in Ashkenazi Jews Erlenmeyer flask deformity DDx: Gaucher (bony infarcts, AVN Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Medical College of Wisconsin

12. E-gezondheid.be - Niemann-Pick, Ziekte Van Informatie over de ziektevan niemannpick. http://www.e-gezondheid.be/nederlands/article.asp?idarticle=7355&idrubrique=

13. MedlinePlus Enciclopedia Médica: Niemann-Pick La enfermedad de niemannpick es causada por mutaciones genéticas específicas cuatro formas de la enfermedad de niemann-pick se caracterizan por una acumulación de esfingomielina http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001207.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Omita y vaya al Contenido Otros enciclopedia temas: A-Ag Ah-Ap Aq-Az B-Bk ... Z Niemann-Pick Contenido: Definici³n Nombres alternativos Causas, incidencia y factores de riesgo S­ntomas ... C©lulas espumosas de Niemann-Pick Definici³n Volver al comienzo La enfermedad de Niemann-Pick es causada por mutaciones gen©ticas espec­ficas. Las cuatro formas de la enfermedad de Niemann-Pick se caracterizan por una acumulaci³n de esfingomielina y colesterol en las c©lulas, particularmente en las c©lulas de ³rganos importantes como el h­gado y el bazo. Las tres formas m¡s conocidas de la enfermedad son los tipos A, B y C. Nombres alternativos Volver al comienzo Deficiencia de esfingomielinasa (enfermedad de Niemann-Pick tipo A) Causas, incidencia y factores de riesgo Volver al comienzo Todos los tipos de Niemann-Pick son enfermedades gen©ticas que se heredan de forma autos³mica recesiva. Los tipos A y B de Niemann-Pick son causados por le deficiencia de la actividad de una enzima espec­fica, la esfingomielinasa ¡cida (ASM), si esta no est¡ o no funciona de manera adecuada, la esfingomielina no puede ser metabolizada de manera adecuada y se acumula dentro de la c©lula provocando eventualmente la muerte celular y el mal funcionamiento de sistemas org¡nicos importantes. El tipo D de Niemann-Pick es muy diferente de los tipos A y B. Los pacientes con tipo C no son capaces de metabolizar el colesterol y otros l­pidos de manera adecuada. Consecuentemente se acumulan cantidades excesivas de colesterol dentro del h­gado y el bazo y se acumulan cantidades excesivas de otros l­pidos en el cerebro. El defecto del metabolismo ocasionalmente conduce a reducci³n secundaria de la actividad de la esfingomielinasa ¡cida en algunas c©lulas.

14. Niemann-Pick Selbsthilfegruppe E.V. Translate this page http://www.niemann-pick.de/

15. Niemann-Pick - Die Niemann Pick Selbsthilfegruppe E.V. Translate this page Die Niemann Pick Selbsthilfegruppe eV. Unsere Gruppe ist eine uns an. Die niemann-pick Selbsthilfegruppe eV wurde am 26. April 1997 http://www.niemann-pick.de/wirueberuns.html

Wir über uns Was bedeutet NP? Diagnose Therapie ... Kontaktaufnahme Die Niemann Pick Selbsthilfegruppe e.V. Unsere Gruppe ist eine gemeinnützige Vereinigung von Eltern, Medizinern, Freunden und sonstigen Personen, die die Suche nach einer Heilungsmethode für diese Krankheit unterstützen möchten. Wir haben erfahren müssen, daß fundiertes Wissen über die Erkrankung aufgrund ihrer geringen Häufigkeit nur in wenigen Zentren vorhanden ist. Die Gruppe hat es sich daher zur Aufgabe gemacht nationale und internationale Forschungsprojekte, die der Erforschung der Ursachen von Niemann Pick Typ A, B und C dienen und Heilungsmethoden versprechen, zu unterstützen. weltweit Infos für Betroffene und behandelnde Ärzte zu beschaffen und weiter zu verbreiten Kontakt zu namhaften Wissenschaftlern weltweit zu pflegen und zu vermitteln die Zusammenarbeit mit auf diesem Gebiet aktiven Selbsthilfegruppen zu fördern Erfahrungsaustausch Betroffener untereinander zu ermöglichen über Behandlungs- und Therapieansätze zu informieren Hilfe bei sozialen Fragen zu bieten nicht in Betroffenheit zu verharren, sondern hoffnungsvoll nach vorne zu blicken

16. GeneReviews: Niemann-Pick Disease, Type C Your browser does not support HTML frames so you must view niemannpick Disease, Type C in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/npc/

Your browser does not support HTML frames so you must view Niemann-Pick Disease, Type C in a slightly less readable form. Please follow this link to do so.

17. International Center For Types A And B Niemann-Pick Disease - Mount Sinai School Patient. Overview of niemannpick Disease. iemann-Pick Disease Type B NPD. View a timeline of historical landmarks in niemann-pick research. http://www.mssm.edu/niemann-pick/niemann-pick.shtml

Patient Overview of Niemann-Pick Disease iemann-Pick Disease (NPD) refers to a group of inherited diseases. The three most commonly recognized forms are called Types A, B and C. The name Niemann-Pick derives from two German pediatricians - Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927. Types A and B NPD are both caused by the deficient activity of acid sphingomyelinase (ASM). This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a special lipid called sphingomyelin . If ASM is absent or not functioning properly, this lipid cannot be metabolized properly and is accumulated within the cell, eventually causing cell and organ system abnormalities. Although Types A and B NPD are both caused by the same enzyme deficiency and are variants of the same disease, the clinical prognosis for these two groups of patients is very different (see Signs and Symptoms Abnormalities in the ASM Gene that Cause Type A or B NPD View a timeline of historical landmarks in Niemann-Pick research.

18. EMedicine - Niemann-Pick Disease : Article By Santiago A Centurion, MD niemannpick Disease. Last Updated February 11, 2003, FULL DISCLAIMER. niemann-pick Disease excerpt. © Copyright 2004, eMedicine.com, Inc. http://www.emedicine.com/derm/topic699.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Niemann-Pick Disease Last Updated: February 11, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, Crocker's syndrome, Crocker syndrome, Crocker-Farber syndrome, Niemann's disease, Niemann disease, Pick's disease, Pick disease, essential lipoid histiocytosis, lipid histiocytosis, phosphatidolipoidosis, phosphatidosis sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Santiago A Centurion, MD , Staff Physician, Department of Dermatology, UMDNJ-New Jersey Medical School Coauthor(s): Danielle Lann, MD , Staff Physician, Dermatology, UMDNJ-New Jersey Medical School Naomi Bartnoff, MS , Genetics Counselor, Obstetrics and Gynecology, UMDNJ-New Jersey Medical School Robert A Schwartz, MD, MPH

19. Niemann-Pick Disease / Family Village Library Library M N. niemann-pick Disease. Who to Contact. National niemann-pick Disease Foundation PO Box 49 415 Madison Ave Ft. Atkinson http://www.familyvillage.wisc.edu/lib_np.htm

Niemann-Pick Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Niemann-Pick Disease" Who to Contact National Niemann-Pick Disease Foundation PO Box 49 415 Madison Ave Ft. Atkinson, WI 53538 877-287-3672 (toll-free) 920-563-0930 (phone) 920-563-0931 (fax) E-mail: nnpdf @idcnet.com Web: http://www.nnpdf.org/ National Niemann-Pick Disease Foundation (NNPDF) gives emotional support, provides assistance through a crisis, shares resources and ideas about such issues as doctors, clinics, insurance companies and other health and human service programs. They provide practical suggestions about day-to-day care of the children, and establish relationships with others who, on a personal level, understand both the anguish and the recovery of being a parent of a dying child. NNPDF provides parent-to-parent matching through membership, families are listed in a directory which is distributed annually. There is a new family packet that includes brochures, fact sheets, and family "care" information. There is also a list of organizations that can be helpful resources. NPD publishes the Niemann-Pick Newsletter , three times a year that is included in the annual membership.

20. Niemann-Pick Disorder niemannpick Disorder. Donations can be made to The National niemann-pick Disease Foundation. The Ara Parseghian Medical Research Foundation. http://zevis11.tripod.com/niemann-pick/

document.isTrellix = 1; var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Check out the NEW Hotbot Tell me when this page is updated Niemann-Pick Disorder Symptoms Detection and Treatment Research Further Information ... Bibliography My name is William, and my brother Jacob was born with Nieman-Pick disease. I love him dearly, and watching him struggle through this disease has been heartbreaking. No one should have to suffer like he has. Presently there is no direct cure for the disease, however with more research one will come. Founding for this research is greatly needed. I have therefore decided to educate the public about the disease in order that more people will donate money to the many foundations working towards a cure. Please take the time to read through this web site, and learn about this dreadful disease. Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. It is an

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