Results 71 to 80 of about 4,864,231 (177)

Heredopatia atática polineuritiforme Heredopathia atactica polyieuritiformis

Arquivos de Neuro-Psiquiatria, 1968
Registro de caso de paciente com quadro mórbido relacionável ao da heredopatia atática polineuritiforme (doença de Refsum). O diagnóstico é discutido frente aos aspectos clínicos, laboratoriais e histopatológicos encontrados e sua relação com os achados ...
A. Spina-França, A. Anghinah, L. C. Mattosinho-França   +2 more
doaj  

Adult Refsum Disease in Puerto Rico: A Case Report. [PDF]

Cureus, 2023
Ramos-Sánchez RY, López-Fontanet JJ, Izquierdo N.   +2 more
europepmc   +1 more source

Author Commentary: Mobile Music Technology: From Innovation to Ubiquitous Use

, 2017
This author commentary chapter accompanies the re-publication of my co-authored 2006 paper ‘Mobile Music Technology: Report on an Emerging Community’ - one of 30 papers selected from 1,200 NIME papers to be included in the book ‘A NIME Reader: Fifteen ...
Behrendt, Frauke
core   +1 more source

Enfermedad de Refsum y adenoma hipofisario

, 2009
Imagen de un cerebro afectado por la enfermedad de Refsum y un adenoma hipofisario.Picture of a brain affected by Refsum's disease and a pituitary ...
Iglesias Rozas, José Rafael, 1942-
core  

Some Challenges of Citizen Science for universities - University approaches to Citizen Science in the transition to Open Science Institutional opportunities and challenges for creating an open and inclusive environment for Research

, 2020
Alexander Refsum Jensenius (University of Oslo) presentation "Some Challenges of Citizen Science for universities" for the EUA and OpenAIRE workshop "University approaches to Citizen Science in the transition to Open Science Institutional opportunities ...
Jensenius , Alexander Refsum
core   +1 more source

PHARC syndrome: an overview

Orphanet Journal of Rare Diseases
PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12)
Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer   +2 more
doaj   +1 more source

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

The relation of CUN-BAE index and BMI with body fat, cardiovascular events and diabetes during a 6-year follow-up: the Hordaland Health Study

Clinical Epidemiology, 2017
Kathrine J Vinknes,1 Eha Nurk,1,2 Grethe S Tell,3 Gerhard Sulo,3 Helga Refsum,1,4 Amany K Elshorbagy4,5 1Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway; 2Department of Surveillance and ...
Vinknes KJ, Nurk E, Tell GS, Sulo G, Refsum H, Elshorbagy AK   +5 more
doaj  

Experiencia diagnóstica y de atención integral de enfermedad de Refsum en el Hospital Pablo Tobón Uribe

, 2017
Objetivo: Describir la experiencia clínica y de diagnóstico de la enfermedad de Refsum con base en las guías de atención por un grupo interdisciplinario de errores innatos del metabolismo. Tipo de estudio: Reporte de caso.
Payán Gómez, Catalina, Rincón Caballero, Olga Lucía, Cabrales Camacho, Lina María, Hincapié Echavarría, Mónica María, Henao Roldán, Caterine, Flores Gómez, Oscar Yezid, Aristizábal Bernal, Beatriz Helena   +6 more
core  

Musikk og bevegelse

Støttemateriell for boken "Musikk og bevegelse" av Alexander Refsum Jensenius (Unipub ...
Alexander Refsum Jensenius
core   +1 more source