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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
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 | Studies | Cyclodextrin | Neurodegeneration | Biomarkers | Drug therapy | Drug dosages | Cerebellum | Slopes | Regulatory agencies | Animal models | Medical services | Childrens health | Hepatocellular carcinoma | Cognition | Cyclodextrins | Cerebrospinal fluid | Dosage | Proteins | Randomization | Npc1 protein | Bioindicators | Safety | Age | Health | FDA approval | Hearing loss | Domains | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity
Journal Article
2017, Fifth edition., ISBN 9781119196204, 1299
The fifth edition of the only comprehensive text dealing exclusively with rare or infrequently encountered malignancies in adults and children is an essential... 
Rare Diseases | Neoplasms | Tumors
Book
2015, Advances in predictive, preventive and personalised medicine, ISBN 9401792135, Volume 6
Web Resource
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
Journal Article
2015, Advances in predictive, preventive, and personalised medicine, ISBN 9401792135, Volume 6
Web Resource
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2015, Volume 11, Issue 12, pp. 1407 - 1416
Journal Article
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
2013, Public health in the 21st century, ISBN 9781629485263
Web Resource