41. 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH In addition to the typical findings of alpers disease, the liver showed extensive Sandbank and Lerman (1972) reported 3 sibs with alpers disease, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:203700] -e

42. Children Living With Inherited alpers disease. Alpha 1Antitrypsin Deficiency. Alport Syndrome. Alstrom Syndrome.Ambiguous Genitalia. Amino Butyric Acid Transaminase Deficiency (Gamma) http://www.climb.org.uk/Disorders/Alfa.htm

Search Our Site C hildren L iving with I nherited M eta b olic Diseases Metabolic Diseases 'A' The National Information and Advice Centre for Metabolic Diseases Disease Also Known as Acanythocytosis Abetalipoproteinaemia Acatalasemia Takahara's Aceruloplasminemia Ceruloplasmin Deficiency Achondroplasia Achondroplastic Dwarfism Acrodermatitis Enteropathica AE Acromegaly Marie Disease ACTH Deficiency Adrenocorticotrophic Hormone Deficency Isolated Acute Ataxia Intermittent Familial Acute Intermittent Porphyria AIP Addison Disease Adredocortical Hypofunction Adenine Phosphoribosyltransferase Deficiency Type I ARPT Deficiency Type 1 Adenine Phosphoribosyltransferase Deficiency Type II ARPT Deficiency Type 2 Adenosine Deaminase Deficiency ADA Deficiency Adenosine Deaminase Superactivity Adenosylcobalamin Deficiency Methylmalonic Aciduria Adenylate Kinase Deficiency AK Deficiency Adenylosuccinate Lyase Deficiency Adenylosuccinase Deficiency Adenylyl Cyclase AC Adrenoleukodystrophy – General ALD Adrenoleukodystrophy – Adult Adrenomyeloneuropathy/AMN Adrenoleukodystrophy – X-Linked ALD – X-Linked Adrenoleukodystrophy – Neonatal ALD – Neonatal Agammaglobulinaemia Antibody Deficiency Gammaglobulin Deficiency Agenesis of Corpus Callosum ACC Aicardi Syndrome Spasm-in-Flexion Aicardi-Goutieres Syndrome AGS ALA-D Porphyria

43. Index A: Contact A Family - For Families With Disabled Children: Information On alpers disease see Metabolic diseases and see Mitochondrial Cytopathies andrelated disorders Alpha One Antitrypsin Deficiency see Liver disease http://www.cafamily.org.uk/Idx/a.html

printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. aAA see Acquired Aplastic Anaemia ACI see Arterial Calcification of Infancy ADA see Primary Immunodeficiencies ADD see Attention Deficit Hyperactivity Disorder ADEM see Acute Disseminated Encephalomyelitis (ADEM) ADHD see Attention Deficit Hyperactivity Disorder AHO see Albright Hereditary Osteodystrophy AHO with Pseudo Hypoparathryrodism see Albright Hereditary Osteodystrophy AHO with Pseudo Pseudo Hypoparathryrodism see Albright Hereditary Osteodystrophy AHT see Thyroid Disorders AIDS see HIV Infection and AIDS ALA Dehydratase deficiency see

44. United Mitochondrial Disease Foundation - Medical Article List By Subject Narkewicz ; MR ; 2004 ; Liver involvement in alpers disease. ; Journal ofPediatrics ; 1991 ; 119(2) ; 2607. Pandha ; HS ; 969 ; Treating acidosis in http://biochemgen.ucsd.edu/umdf/liver.htm

The UMDF Medical Article List Subject: Liver Disease Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Asano ; K. ; 220* ; Changes in the rat liver mitochondrial DNA upon aging ; Mech Ageing Dev ; 1991 ; 60(3) ; 275-84 Bakker ; HD ; 3162 ; Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease ; J Pediatr ; 1996 ; 128(5) ; 683-687 Bioulac-Sage ; P ; 847 ; Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. ; Hepatology ; 1993 ; 18(4) ; 839-46 Boles ; RG ; 2337* ; Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver [see comments]. ; Human Pathology ; 1994 ; 25(8) ; 735-41 Britton ; CH ; 3246* ; Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. ; Proc Natl Acad Sci USA ; 1995 ; 92(6) ; 1984-1988

45. Human Prion Diseases alpers disease is also known as Progressive Neuronal Degeneration of Childhood with alpers disease is classified not only as a prion disease but as a http://cloud.prohosting.com/lzambeni/prions/human_prion_diseases.html

Human Prion Diseases Search This Site Animal Prion Diseases Human Prion Diseases Prion Disease Categories ... nvCJD-UK Blood/Vaccine Ban 1/17/2001 - The American Redcross announced to the Spongiform Encephalopathy Committee of the FDA that it fully supports extending the UK Blood ban to below 6 months and extending it to include donors from, or who have traveled to, NOT JUST FRANCE, BUT ALL OF WESTERN EUROPE. Read their entire statement (1 page). Most recently, the Red cross is urging in a Science (March 9, 2001) article that a "Broad U.S. Response is Required," an incredible turn around for an agency which had been saying up till recently that there was "no proof" that prion disease could be acquired via blood products. Read more on nvCJD and the UK Blood and Vaccine Ban. Le Malattie Prioni - Informazione in Italiano: Per informazione in Italiano per quanto riguarda le malattie prioni - "La Malattia della Mucca Pazza" ("ESB" o "BSE" - L'Encefalopatia Spongiforme Dei Bovini), "MCJ" o "CJD" ( La Malattia Di Creutzfeldt Jacob) oppure di "nvMCJ" o "nvCJD" (La nuova variante di CJD) leggateVi la pagina eccellente "OLTRE LA BARRIERA DELLE SPECIE; E NESSUNA CURA IN VISTA - Dalle mucche pazze agli umani la prossima piaga mondiale"

46. Folding Bikes alouattinae; aloxiprin; alp; alpaca; Alpers, Bernard; alpers disease; Alpertsyndrome; alpestrine; alpha; alpha12,alpha1-3,alpha1-6-mannosidase; http://www.webs-unlimited.co.uk/folding_bikes.htm

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47. Therapeutic Category Cross-Reference Guide alpers disease ( rightward arrow Diffuse Cerebral Sclerosis of Schilder),Neuroprotective (Nervous System); Neurodegenerative (Nervous System); Brain Injury http://www.ndapipeline.com/pipeline/therapeutic_guide/a.htm

A B C D E ... Z Therapeutic Category Cross-Reference Guide Help Specific Diseases Therapeutic Categories Abscess Inflammation Achondroplasia Bone Disorders (Musculoskeletal) Acne See Acne Vulgaris Acne Rosacea Acne (Dermatology); Rosacea (Dermatology); Skin Discoloration (Dermatology) Acne Vulgaris Acne (Dermatology); Inflammation Acquired Immunodeficiency Syndrome, AIDS Antiviral - HIV (Infectious Disease); Antiviral - AIDS (Infectious Disease) Acrodynia ( Mercury Poisoning) Acromegaly ( Pituitary Diseases) Growth Disorders - Acromegaly (Musculoskeletal); Endocrine (Musculoskeletal) Actinic Keratosis Actinic Keratosis (Dermatology) Actinomycosis Inflammation; Antibacteria (Infectious Disease) Acute Respiratory Distress See Respiratory Distress Syndrome Adams-Stokes Disease ( Arrhythmia) Arrhythmia (Cardiovascular); Tachycardia (Cardiovascular); Anticonvulsant (Nervous System) Addison's Disease Endocrine (Musculoskeletal); Skin Discoloration (Dermatology); Anemia (Blood); Iron Disorder (Blood); Diarrhea (GI) Adenocarcinoma Cancer Adenoma Cancer Adenomatous Polyposis Coli Cancer Adenovirus Infection Respiratory; Antiviral (Infectious Disease)

48. The Australian CJD Homepage alpers disease Bovine spongiform encephalopathy Chronic wasting disease of deer alpers disease represents a group of very rare chronic progressive http://members.tripod.com/~cjdhome/tse.htm

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod Murderball Share This Page Report Abuse Edit your Site ... Next TSE's 10.1 The phenomena seen with transmissible spongiform encephalopathies and an attempt to explain what is seen An attempt is made here to give a short description of what is seen with these diseases. They are all fatal, untreatable, diseases, for which there is no adequate method of diagnosis before death. The can be passed from one species to another by taking them in orally or by injection. The disease does not seem to be destroyed by simple cooking and produced no immunity in the body. The TSEs that we know are closely related in the way that damage is produced and the method of transmission. The description given here is from the article 'TSEs' of the Encylcopaedia of Microbiology Volume 4 Academic Press 1992. Alpers disease Bovine spongiform encephalopathy Chronic wasting disease of deer Creutzfeldt-Jakob disease Dose experiments Feline spongiform encephalopathy Gerstmann-Straussler-Scheinker Histopathology Immunity Infective agent Kuru Prevention Resistance of agent to destruction Scrapie Species barrier Tissue infectivity Transmissible mink encephalopathy Zoological spongiform encephalopathy Scrapie In 1936 reserarchers showed that scrapie could be transmitted to a healthy sheep by the intra-ocular inoculation of a homogenate of scrapie infected brain. This experiment led to large amounts of resrarch conernig the mode of transmission of TSE.

49. Novita - Disability Information Links Great Ormond Street Hospital for Children Alpers Disease page National Instituteof Neurological Disorders and Stoke - alpers disease fact sheet http://www.novita.org.au/content.asp?p=4

50. Alpers alpers disease. Home HotLines Resources Printed Guide Child Care forthe 90 s Links. © 1997 ABC F Press MoreInfo@ChildHealthInfo.com. http://www.childhealthinfo.com/alpers.htm

ALPERS DISEASE [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

51. Australian Parliamentary Library - 1995-96 Research Note 45 SEs include GerstmannStraussler-Scheinker disease, alpers disease and kuru,this latter disease having afflicted certain tribes in Papua-New Guinea. http://www.aph.gov.au/library/pubs/rn/1995-96/96rn45.htm

Research Note 45 1995-96 Mad Cow Disease: Horror or Hysteria? Denis James Economics, Commerce and Industrial Relations Group Bovine Spongiform Encephalopathy (BSE), or 'mad cow disease', was first identified in the UK in November 1986. By July 1993, 100,000 cases of the disease had been confirmed and in 1995 alone, almost 20,000 British cows succumbed to the illness. The afflicted animals become anxious, develop an abnormal gait, suffer muscular spasms and cease eating. Upon autopsy, the animal's brain exhibits characteristic spongy changes in the structure of its nervous tissue with extensive nerve cell degeneration. BSE is only one of a number of spongiform encephalopathies (SEs) found in many species, including man. In humans, the closest analogue is Creutzfeldt-Jacob disease (CJD), but other human SEs include Gerstmann-Straussler-Scheinker disease, Alpers disease and kuru, this latter disease having afflicted certain tribes in Papua-New Guinea. Sheep can exhibit SE in the form of 'scrapie' while similar illnesses are also found in mink, deer, cats and other animals. All of these conditions are fatal. Most important is the fact that these illnesses involve some infectious agent and are transmissible. CJD, for example, has been transmitted amongst humans through human growth hormone, corneal transplantation and infected surgical instruments. BSE has been transmitted, in the laboratory, to cattle, mice, sheep and goats both orally or through the injection of infected tissue.

52. Biology Of TSEs alpers disease; Bovine spongiform encephalopathy; Chronic wasting disease of deer alpers disease represents a group of very rare chronic progressive http://bse.airtime.co.uk/tse.htm

The phenomena seen with transmissible spongiform encephalopathies and an attempt to explain what is seen An attempt is made here to give a short description of what is seen with these diseases. They are all fatal, untreatable, diseases, for which there is no adequate method of diagnosis before death. The can be passed from one species to another by taking them in orally or by injection. The disease does not seem to be destroyed by simple cooking and produced no immunity in the body. The TSEs that we know are closely related in the way that damage is produced and the method of transmission. The description given here is from the article 'TSEs' of the Encylcopaedia of Microbiology Volume 4 Academic Press 1992. To jump to the specific aspect of the text, click on one of the headings below Alpers disease Bovine spongiform encephalopathy Chronic wasting disease of deer Creutzfeldt-Jakob disease ... Zoological spongiform encephalopathy To return to the index page Scrapie In 1936 reserarchers showed that scrapie could be transmitted to a healthy sheep by the intra-ocular inoculation of a homogenate of scrapie infected brain. This experiment led to large amounts of resrarch conernig the mode of transmission of TSE. Transmissible spongiform encephalopathies of humans TSEs of humans are divided into specific clinical types, which may appear similar histopathologically but are either spread differently or have different patterns of distribution and prevalence.

53. Blackwell Synergy - Cookie Absent Sondheimer J, Silverman A. Liver involvement in Alpers disease. Valproate induced liver failure in one of two siblings with alpers disease. http://www.blackwell-synergy.com/doi/abs/10.1034/j.1399-3046.2000.00125.x

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54. Mitochondrial Diseases alpers disease. Long name Progressive Infantile Poliodystrophy. Symptomsseizures, dementia, spasticity, blindness, liver dysfunction, and cerebral http://www.tsbvi.edu/Outreach/seehear/spring02/mitochondrial.htm

Home Site TOC Site Search Outreach ... Spring 2002 Table of Contents (Spanish Version) Mitochondrial Diseases Excerpted and reprinted with permission from the United Mitochondrial Disease Foundation, Inc. http://www.umdf.org/ SEE/HEAR Editor's note: A number of children in Texas who are visually impaired or deafblind have as the cause of their sensory loss, Mitochondrial diseases. In order to understand more about these diseases, I visited the United Mitochondrial Disease Foundation website. I learned that we have a great opportunity in Texas to learn more about these diseases because their 5th International Conference on Mitochondrial Diseases will be held this year in Dallas. I want to thank the UMDF for letting me excerpt portions of the wealth of information they provide on their website to share with our SEE/HEAR readers. I encourage you to visit this website if you have a child with a Mitochondrial disease or if you are a teacher working with one of these children. Basis of the Disease Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

55. Mitochondrial Conditions alpers disease (Progressive Infantile Poliodystrophy); Barth syndrome (CardiomyopathyNeutropeniaSyndrome) / Lethal Infantile Cardiomyopathy (LIC); http://www.kumc.edu/gec/support/mitochon.html

Mitochondrial Conditions Alpers Disease (Progressive Infantile Poliodystrophy); Barth syndrome (Cardiomyopathy-Neutropenia Syndrome) / Lethal Infantile Cardiomyopathy (LIC); Beta-oxidation Defects; Carnitine Deficiency and Disorders; Chronic Progressive External Ophthalmoplegia Syndrome (CPEO); Kearns-Sayre Syndrome (KSS); Lactic Acidosis; Leber Hereditary Optic Neuropathy (LHON); Leigh Disease (Subacute Necrotizing Encephalomyelopathy); Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency; Luft Disease; Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency; Mitochondrial Cytopathy; Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS); Mitochondrial Encephalopathy; Mitochondrial Myopathy; Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency / Glutaric Aciduria Type II; Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); Myoneurogastointestinal Disorder and Encephalopathy (MNGIE); Neuropathy Ataxia and Retinitis Pigmentosa (NARP); Pearson Syndrome; Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase Deficiency (PHD); Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Respiratory Chain Disorders: Complex I: NADH dehydrogenase (NADH-CoQ reductase) deficiency, Complex II: Succinate dehydrogenase deficiency, Complex III: Ubiquinone-cytochrome c oxidoreductase deficiency, Complex IV: Cytochrome c oxidase (COX) deficiency, Complex V: ATP synthase deficiency

56. Entrez PubMed alpers disease is a neurodegenerative disorder of childhood characterized byearly developmental del http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

57. Entrez PubMed alpers disease consists of diffuse cerebral degeneration manifested as developmentaldelay, seizures http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

58. List Of Diseases Starting With A -- Facts, Info, And Encyclopedia Article (Click link for more info and facts about alpers disease) alpers disease (Clicklink for more info and facts about Alpha 1antitrypsin deficiency) Alpha http://www.absoluteastronomy.com/encyclopedia/l/li/list_of_diseases_starting_wit

List of diseases starting with A [Categories: Lists of diseases] A listing of (An impairment of health or a condition of abnormal functioning) disease s. A (The 2nd letter of the Roman alphabet) B (The 3rd letter of the Roman alphabet) C (The 4th letter of the Roman alphabet) D (The 5th letter of the Roman alphabet) E (The 6th letter of the Roman alphabet) F (The 7th letter of the Roman alphabet) G (The 8th letter of the Roman alphabet) H (The 9th letter of the Roman alphabet) I (The 10th letter of the Roman alphabet) J (The 11th letter of the Roman alphabet) K (The 12th letter of the Roman alphabet) L (The 13th letter of the Roman alphabet) M (The 14th letter of the Roman alphabet) N (The 15th letter of the Roman alphabet) O (The 16th letter of the Roman alphabet) P (The 17th letter of the Roman alphabet) Q (The 18th letter of the Roman alphabet) R (The 19th letter of the Roman alphabet) S (The 20th letter of the Roman alphabet) T (The 21st letter of the Roman alphabet) U (The 22nd letter of the Roman alphabet) V (The 23rd letter of the Roman alphabet) W (The 24th letter of the Roman alphabet) X (The 25th letter of the Roman alphabet) Y (The 26th letter of the Roman alphabet) Z Aa-Ab (Click link for more info and facts about Aagenaes syndrome) Aagenaes syndrome Aarskog Ose Pande syndrome (Click link for more info and facts about Aarskog syndrome) Aarskog syndrome Aase Smith syndrome (Click link for more info and facts about Aase syndrome) Aase syndrome ABCD syndrome Abdallat Davis Farrage syndrome (An aneurysm of the abdominal aorta associated with old age and hypertension)

59. BBC - H2g2 - Prions alpers disease is a possible exception to the rule as it affects children.The mutated genes suspected of causing inherited CJD were used in vivisection http://www.bbc.co.uk/dna/h2g2/A531776

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index Thursday 8th September 2005 Text only Guide ID: A531776 (Edited) Edited Guide Entry SEARCH h2g2 Advanced Search New visitors: Returning members: BBC Homepage The Guide to Life The Universe and Everything 1. Life Created: 18th April 2001 Prions Front Page What is h2g2? Who's Online Write an Entry ... Help Like this page? Send it to a friend! A prion is a protein composed of about 250 amino acids. The term 'prion', meaning 'proteinaceous infectious particle' was first coined by Stanley B Prusiner in 1982 to refer to an infectious agent that caused a range of neurodegenerative diseases in animals, including humans. He proposed that this agent consisted of a protein and nothing more. The research he had carried out indicated that no genetic material whatsoever, was involved in the transmission of prion diseases. This was viewed as scientific heresy at the time. Every other disease studied up to that point, employed DNA or RNA, whether the microbial agent was a bacterium, a fungus, a nematode, a protozoan, a virus - all required genes to carry instructions to replicate. Proteins are manufactured in cells as they are required by the body. Their form and function is genetically determined. Each protein is made up of amino acids strung together in a specific sequence. The type of protein depends on the types and sequence of its amino acids. These control the way the protein is folded which, in turn, determines the function of the protein. Proteins are contortionists - folded and twisted into very complicated shapes.

60. CLiC - Cholestatic Liver Disease Consortium Narkewicz MR, Sokol RJ, Beckwith B, Sondheimer J, Silverman A Liver involvementin alpers disease. J Pediatr 119260267, 1991. Sokol RJ, Butler-Simon N, http://rdcrn.epi.usf.edu/clic/centers/denver.htm

CLiC Cholestatic Liver Disease Consortium What is CLiC? Learn More Take Action Information for Physicians ... Contact Information The Children's Hospital, Denver The Children's Hospital Web Site Contact Information: Ronald Sokol, MD Principal Investigator The Children's Hospital and University of Colorado Health Sciences Center 1056 East 19th Avenue Box B290 Denver, CO 80218 Fax: 303-764-8025 Email: sokol.ronald@tchden.org Joel E Haas M.D. CLiC Pathologist The Children's Hospital 1056 E. 19th Avenue Denver, CO 80218 Cara L Mack M.D. The Children's Hospital 1056 E. 19th Avenue Denver, CO Michael R Narkewicz M.D. The Children's Hospital 1056 E. 19th Avenue Denver, CO Johan L Van Hove M.D. The Children's Hospital 1056 E. 19th Avenue Denver, CO Beth Esterl, RN, MS, CCRC Study Coordinator Email: esterl.elizabeth@tchden.org About Us: Dr. Ron Sokol Dr. Sokol is the Director of the Pediatric General Clinical Research Center and Associate Medical Director of the Pediatric Liver Center. He is also a Professor and Vice Chair of Pediatrics at The University of Colorado Health Sciences Center. Dr. Sokol received his MD degree from the University of Chicago School of Medicine. He completed his pediatric training at the University of Colorado Health Sciences Center and subspecialty training at the Children's Hospital Research Foundation of Cincinnati. Useful Links: The Department of Pediatrics Section of Gastroenterology, Hepatology and Nutrition at the University of Colorado

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

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