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International Journal of Audiology, ISSN 1499-2027, 08/2018, Volume 57, Issue sup4, pp. S19 - S28
Objectives: Define clinical trials and adverse event (AE) monitoring from the perspective of the audiologist. Rationalise the importance of audiology's... 
clinical trial | adverse event | ototoxicity grading scale | ototoxicity monitoring | Ototoxicity | SYSTEM | CISPLATIN OTOTOXICITY | AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY | INTERNATIONAL SOCIETY | CONSENSUS | CONCORDANCE | CHILDRENS ONCOLOGY GROUP | CHEMOTHERAPY | OTORHINOLARYNGOLOGY | Index Medicus
Journal Article
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 | Hearing | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity | Index Medicus | Abridged Index Medicus
Journal Article
Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 6, pp. 809 - 821
Journal Article
Blood, ISSN 0006-4971, 2009, Volume 114, Issue 3, pp. 535 - 546
Journal Article
Journal Article
Annals of the American Thoracic Society, ISSN 2325-6621, 2014, Volume 11, Issue 1, pp. 30 - 35
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 07/2019, Volume 20, Issue 1, pp. 118 - 118
BackgroundRecessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some... 
Deafness | DFNB4 | PENDRED-SYNDROME | VARIANTS | SYNDROMIC HEARING-LOSS | GENOTYPE | Pendred syndrome | Hearing | Noncoding | MUTATION | GENETICS & HEREDITY | SLC26A4 | Haplotype | ASSOCIATION | Genetic aspects | Research | Gene mutations | Vestibular apparatus | Hearing loss
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16077 - 16077
Journal Article