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1. Orphan
: the quest to save children with rare genetic disorders
by Reilly, Philip, 1947
2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
"This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
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2. Rare diseases
: integrative PPPM approach as the medicine of the future
by Özgüç, Meral
2015, Advances in predictive, preventive and personalised medicine, ISBN 9401792135, Volume 6
Rare diseases
Web Resource
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3. Rare diseases
: challenges and opportunities for social entrepreneurs
by Sireau, Nicolas, 1973- editor
2013, 1, ISBN 9781906093525, vi, 272
This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the... 
Rare diseases | Treatment | Research | Drug development | Social entrepreneurship | Corporate Social Responsibility & Business Ethics | Environment & Business | Orphan Drug Production | Europe | Entrepreneurship | Organization & administration | Drug therapy | Methods
Book
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4. Rare diseases
: integrative PPPM approach as the medicine of the future
by Özgüç, Meral, 1951
2015, Advances in predictive, preventive, and personalised medicine, ISBN 9401792135, Volume 6
Preventive Medicine | Rare Diseases | prevention & control | trends | Precision Medicine
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5. Rare diseases epidemiology
by Posada de la Paz, Manuel and Groft, Stephen C
2010, Advances in experimental medicine and biology, ISBN 9048194857, Volume 686, xxii, 542
This inclusive text is the first publication to address rare diseases as a public health problem. The work analyzes the constraints on epidemiological research... 
Rare diseases | Epidemiology
Book
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6. Rare diseases
: diagnoses, challenges and developing treatments
by Giovanni, Giorgio Di and Marcoz, Pietro
2013, Public health in the 21st century, ISBN 9781629485263
Rare diseases | Diseases
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7. Rare diseases and orphan products
: accelerating research and development
by Field, Marilyn J. (Marilyn Jane) and Boat, Thomas F and Institute of Medicine (U.S.). Committee on Accelerating Rare Diseases Research and Orphan Product Development and National Academies Press (U.S.) and Board on Health Sciences Policy and Institute of Medicine and Committee on Accelerating Rare Diseases Research and Orphan Product Development
2010, ISBN 9780309158077, xxi, 420
Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions... 
Rare diseases | Drugs | Design | Orphan drugs | Orphan Drug Production | Treatment | drug therapy | Drug Evaluation | Policy Making | Health Policy | Drug Discovery
Book
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8. Full Text Cell therapy for basement membrane-linked diseases
by Nyström, Alexander and Bornert, Olivier and Kühl, Tobias
Matrix Biology, ISSN 0945-053X, 01/2017, Volume 57-58, pp. 124 - 139
For most disorders caused by mutations in genes encoding basement membrane (BM) proteins, there are at present only limited treatment options available.... 
Rare diseases | Therapy | Skin | Muscle | Kidney | Basement membrane | CONGENITAL MUSCULAR-DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | ALPHA-3 CHAIN GENE | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | FRASER-SYNDROME | MESENCHYMAL STROMAL CELLS | CLINICAL-TRIALS | MOUSE MODEL | VII COLLAGEN | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | Brain Diseases - metabolism | Cell- and Tissue-Based Therapy - methods | Fibroblasts - transplantation | Heart Diseases - metabolism | Humans | Extracellular Matrix - metabolism | Skin Diseases - pathology | Basement Membrane - pathology | Stem Cell Transplantation | Mesenchymal Stromal Cells - cytology | Brain Diseases - therapy | Keratinocytes - transplantation | Induced Pluripotent Stem Cells - cytology | Eye Diseases - pathology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Kidney Diseases - metabolism | Skin Diseases - therapy | Skin Diseases - metabolism | Kidney Diseases - pathology | Muscular Diseases - metabolism | Induced Pluripotent Stem Cells - transplantation | Mesenchymal Stromal Cells - metabolism | Eye Diseases - metabolism | Keratinocytes - cytology | Muscular Diseases - pathology | Basement Membrane - metabolism | Brain Diseases - pathology | Heart Diseases - therapy | Keratinocytes - metabolism | Kidney Diseases - therapy | Fibroblasts - cytology | Extracellular Matrix - pathology | Muscular Diseases - therapy | Heart Diseases - pathology | Eye Diseases - therapy | Proteins | Bone marrow | Transplantation | Hematopoietic stem cells
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9. Anesthesia and uncommon diseases
by Fleisher, Lee A
2012, 6th ed., ISBN 1437727875, xviii, 641
Your awareness of uncommon diseases and possible complications is vital to successful anesthetic patient management. Anesthesia and Uncommon Diseases, 6th... 
Anesthesia | Rare Diseases | Rare diseases
Book
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10. Full Text IgG4-related diseases
by Guma, Monica and Firestein, Gary S
Best Practice & Research: Clinical Rheumatology, ISSN 1521-6942, 2012, Volume 26, Issue 4, pp. 425 - 438
Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a fascinating condition recognised as a systemic disease in 2003 [1,2] . The first link between... 
Rheumatology | Sjogren disease | Rituximab | Retroperitoneal fibrosis | IgG4 | IgG4-related diseases | LONG-TERM PROGNOSIS | SYSTEMIC-DISEASE | CLINICOPATHOLOGICAL-ENTITY | RHEUMATOLOGY | SERUM IGG4 | MIKULICZS-DISEASE | COMPLICATING AUTOIMMUNE PANCREATITIS | EXTRAPANCREATIC LESIONS | SCLEROSING DISEASE | TUBULOINTERSTITIAL NEPHRITIS | Rare Diseases - immunology | Humans | Immunosuppressive Agents - therapeutic use | Rare Diseases - drug therapy | Autoimmune Diseases - immunology | Rare Diseases - diagnosis | Male | Autoimmune Diseases - diagnosis | Organ Specificity - immunology | Plasma Cells - pathology | Immunoglobulin G - immunology | Sex Factors | Female | Rare Diseases - pathology | Autoimmune Diseases - pathology | Autoimmune Diseases - drug therapy | Plasma Cells - immunology | Autoimmunity | Immunoglobulin G
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11. Rare diseases
2013
Rare diseases
Web Resource
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12. Full Text Type I interferonopathies in pediatric rheumatology
by Volpi, Stefano and Picco, Paolo and Caorsi, Roberta and Candotti, Fabio and Gattorno, Marco
Pediatric Rheumatology, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, p. 35
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a... 
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | ALPHA MONOCLONAL-ANTIBODY | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HYPER-GAMMA-GLOBULINEMIA | RHEUMATOLOGY | MUSCULAR-ATROPHY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | PROTEASOME SUBUNIT | PEDIATRICS | PHASE-I | IFN-ALPHA | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors
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13. Full Text Taxonomy of rare genetic metabolic bone disorders
by Masi, L and Agnusdei, D and Bilezikian, J and Chappard, D and Chapurlat, R and Cianferotti, L and Devolgelaer, J.-P and El Maghraoui, A and Ferrari, S and Javaid, M K and Kaufman, J.-M and Liberman, U A and Lyritis, G and Miller, P and Napoli, N and Roldan, E and Papapoulos, S and Watts, N B and Brandi, M L
Osteoporosis International, ISSN 0937-941X, 10/2015, Volume 26, Issue 10, pp. 2529 - 2558
This article reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working... 
Metabolic bone diseases | Medicine & Public Health | Rare bone diseases | Taxonomy | Orthopedics | Rheumatology | Bone metabolism | Endocrinology | Genetic bone diseases | OSTEOCYTES | OSTEOBLAST | RESORPTION | BIOCHEMICAL MARKERS | MEMBRANE | VACUOLAR PROTON PUMP | MECHANISMS | OSTEOPOROSIS | DISEASES | ENDOCRINOLOGY & METABOLISM | OSTEOPETROSIS | Rare Diseases - genetics | Humans | Osteoblasts - physiology | Bone Diseases, Metabolic - diagnosis | Rare Diseases - diagnosis | Proteoglycans - metabolism | Bone Diseases, Developmental - genetics | Osteocytes - physiology | Bone Diseases, Metabolic - metabolism | Bone Diseases, Metabolic - classification | Phenotype | Bone Diseases, Developmental - metabolism | Rare Diseases - classification | Bone Diseases, Developmental - classification | Bone Diseases, Metabolic - genetics | Osteoclasts - physiology | Bone Diseases, Developmental - diagnosis | Rare Diseases - metabolism | Genetic research | Genetic aspects | Bone diseases | Drug therapy | Metabolism | Genetic disorders
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14. Anesthesia and uncommon diseases
by Fleisher, Lee A
2006, 5th ed., ISBN 1416022120, xiv, 658
Avoid complications associated with unusual and complicated diseases with help from the new edition of this classic source! Previously edited by Dr. Jonathan... 
Rare diseases | Anesthesia | Disease | Pathophysiology | Complications | Surgery
Book
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15. Full Text Spectrum of orocutaneous disease associations: Genodermatoses and inflammatory conditions
by Wilder, Elizabeth G and Frieder, Jillian and Sulhan, Suraj and Michel, Pablo and Cizenski, Jeffrey D and Wright, John M and Menter, M. Alan
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2017, Volume 77, Issue 5, pp. 809 - 830
The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant... 
amyloidosis | genodermatoses | inflammatory | sclerosis complex | tuberous erythema multiforme | sarcoidosis | cutaneous manifestations | Darier disease | lichen planus | orocutaneous diseases | Peutz-Jeghers syndrome | Behcet disease | nevoid basal cell carcinoma syndrome | oral cavity | burning mouth syndrome | ERYTHEMA MULTIFORME | CELL CARCINOMA SYNDROME | ORAL LICHEN-PLANUS | DERMATOLOGY | PAPILLON-LEFEVRE-SYNDROME | TUBEROUS SCLEROSIS | CUTANEOUS SARCOIDOSIS | DARIERS-DISEASE | ECCRINE SQUAMOUS SYRINGOMETAPLASIA | NECROTIZING SIALOMETAPLASIA | Education, Medical, Continuing | Prognosis | Skin Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Male | Genetic Diseases, Inborn - epidemiology | Incidence | Darier Disease - epidemiology | Mouth Diseases - epidemiology | Darier Disease - genetics | Skin Diseases - physiopathology | Female | Skin Diseases - epidemiology | Genetic Predisposition to Disease - epidemiology | Mouth Mucosa - pathology | Mouth Diseases - physiopathology | Epidermis - pathology | Risk Assessment | Tuberous Sclerosis - epidemiology | Darier Disease - physiopathology | Rare Diseases | Skin Neoplasms - epidemiology | Skin Neoplasms - physiopathology | Tuberous Sclerosis - genetics | Skin Neoplasms - genetics | Tuberous Sclerosis - physiopathology | Genetic Diseases, Inborn - physiopathology | Mouth Diseases - genetics | Medical colleges | Continuing medical education | Skin cancer
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16. Full Text Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
by Ory, Daniel S and Ottinger, Elizabeth A and Farhat, Nicole Yanjanin and King, Kelly A and Jiang, Xuntian and Weissfeld, Lisa and Berry-Kravis, Elizabeth and Davidson, Cristin D and Bianconi, Simona and Keener, Lee Ann and Rao, Ravichandran and Soldatos, Ariane and Sidhu, Rohini and Walters, Kimberly A and Xu, Xin and Thurm, Audrey and Solomon, Beth and Pavan, William J and Machielse, Bernardus N and Kao, Mark and Silber, Steven A and McKew, John C and Brewer, Carmen C and Vite, Charles H and Walkley, Steven U and Austin, Christopher P and Porter, Forbes D
The Lancet, ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,... 
MIGLUSTAT THERAPY | STORAGE | MEDICINE, GENERAL & INTERNAL | HEPATOCELLULAR-CARCINOMA | CHOLESTEROL | BIOMARKER | CYCLODEXTRIN | CALBINDIN-D | PATIENT | BRAIN | CHILDREN | Injections, Spinal | Niemann-Pick Disease, Type C - drug therapy | 2-Hydroxypropyl-beta-cyclodextrin - adverse effects | Humans | Rare Diseases - drug therapy | Hearing Loss, High-Frequency - chemically induced | Child, Preschool | Niemann-Pick Disease, Type C - cerebrospinal fluid | Fatty Acid Binding Protein 3 - cerebrospinal fluid | Male | Biomarkers - blood | Hydroxycholesterols - cerebrospinal fluid | 2-Hydroxypropyl-beta-cyclodextrin - administration & dosage | Disease Progression | Dose-Response Relationship, Drug | Young Adult | Adolescent | Calbindins - cerebrospinal fluid | Female | Hydroxycholesterols - blood | Biomarkers - cerebrospinal fluid | Niemann-Pick Disease, Type C - blood | Child | Niemann-Pick disease | Medical research | Genetic disorders | Research & development--R&D | Clinical trials | Patients | Cholesterol |