Results 11 to 20 of about 13,993 (190)

Albinism – symptomatology, aetiology, and therapy

Pediatria Polska
Albinism is a rare, genetically determined disorder of melanogenesis resulting in a reduction or complete absence of melanin in tissues of ectodermal origin, especially skin, hair, and irises of the eyes.
Beata Chałupczyńska, Elżbieta Ciara, Krystyna H. Chrzanowska, Agnieszka Madej-Pilarczyk   +3 more
doaj   +2 more sources

Albinism in Africa: information for children [PDF]

, 2014
This leaflet provides information on albinism for children and young ...
Lund, Patricia
core   +11 more sources

Albinism in Zambia: information for children [PDF]

, 2014
This leaflet provides information on albinism for children and young ...
Lund, Patricia
core   +11 more sources

Real Lives: Personal and Photographic Perspectives on Albinism

, 2005
Real Lives' portrays the past and present lives of twelve people living with albinism in Great Britain and Northern Ireland. Through interviews and analysis, the authors examine the many challenges and barriers these people have faced.
Spinks, Robin Mackenzie, Roy, Archie W. N.   +1 more
core   +7 more sources

Caring for Rare Genetic Disease: A Vision for the Future. [PDF]

J Genet Couns
ABSTRACT The United Nations, 2021 resolution to promote and protect the human rights of the estimated 300 million People Living with a Rare Disease and their families, set a milestone worldwide. At the same time, the successful diagnostic results of large genomic initiatives are reshaping rare disease healthcare in many countries.
Horn R, Wynn SL, Houge SD.
europepmc   +2 more sources

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells [PDF]

, 2008
The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes.
Bennett, DC, Venturi C, Palmigiano, A, Schiaffino, MV, Piccirillo, R, Altimare D., Rotondo G., Tacchetti, C, Marigo, V, Bagnato P., Coppola M., Rotondo, G, Venturi, C, Sviderskaya, EV, Palmisano I., Palmigiano A., Altimare D, Bagnato, P, Marigo V., Surace, EM, Altimare, D, Tacchetti C, Innamorati G., Venturi C., Surace E. M., Palmisano I, Rotondo G, INNAMORATI, Giulio, BALLABIO, ANDREA, Schiaffino M. V., Sviderskaya E. V., Palmigiano A, Innamorati G, SURACE, Enrico Maria, Sviderskaya EV, Piccirillo R, Bagnato P, Ballabio A., Incerti B, Piccirillo R., Tacchetti C., Schiaffino MV, Coppola, M, Incerti, B, Bennett DC, Incerti B., Palmisano, I, Coppola M, Bennett D. C., Innamorati, G, Ballabio, A, Marigo V   +51 more
core   +1 more source

Oculocutaneous albinism [PDF]

Orphanet Journal of Rare Diseases, 2007
Abstract Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a ...
Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen   +2 more
openaire   +3 more sources

Children with albinism in African regions: their rights to ‘being’ and ‘doing’

BMC International Health and Human Rights, 2018
Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor   +3 more
doaj   +1 more source

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases. [PDF]

, 2012
Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed.
Rambau, Peter, Kamugisha, Erasmus, Nestory Masalu, Peter Rambau, Gilyoma, Japhet M, Phillipo L Chalya, Joseph B Mabula, Jaka, H., Giiti, G, Ssentongo Robert, Mchembe, Mabula D, Geofrey Giiti, Jaka, Hyasinta, Mabula D Mchembe, Masalu, N., Giiti, Geofrey, Robert, Ssentongo, Rambau, P., Erasmus Kamugisha, Robert, S., Chalya, Phillipo L, Masalu, Nestory, Gilyoma, J.M, Hyasinta Jaka, Mabula, J.B, Chalya, P.L, Japhet M Gilyoma, Kamugisha, E., Mabula, Joseph B, Mchembe, M.D   +29 more
core   +2 more sources

Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.

PLoS ONE, 2019
Background/aimsTo analyse the distribution of macular ganglion cell layer thickness (GCLT) in patients with foveal hypoplasia (FH) with or without albinism to obtain new insights into visual pathway anomalies in albinos.MethodsPatients with FH who ...
Viktoria C Brücher, Peter Heiduschka, Ulrike Grenzebach, Nicole Eter, Julia Biermann   +4 more
doaj   +1 more source