Results 91 to 100 of about 6,439 (248)
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]
, 2020 Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam +13 more
core +3 more sources
Albinism – symptomatology, aetiology, and therapy
Pediatria PolskaAlbinism 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 +3 more
doaj +1 more source
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma
Pigment Cell &Melanoma Research, Volume 38, Issue 5, September 2025.Germline exome sequencing of 106 Finnish patients with UM, considered at higher risk for genetic cancer predisposition, identified pathogenic or likely pathogenic variants associated with varying risk of malignancies in 16 patients (15%). Six patients (6%) carried multiple variants and had a median diagnosis age of 51, compared to 60 in the full cohort
Pauliina E. Repo +10 more
wiley +1 more source
Asia-Pacific Journal of Ophthalmology, 2023 Hongfei, Ye, Kerong, Mao, Peiquan, Zhao
openaire +2 more sources
Automatic Detection of Cone Photoreceptors In Split Detector Adaptive Optics Scanning Light Ophthalmoscope Images [PDF]
, 2016 Quantitative analysis of the cone photoreceptor mosaic in the living retina is potentially useful for early diagnosis and prognosis of many ocular diseases.
Carroll, Joseph +6 more
core +2 more sources
Rehabilitación visual en albinismo. Revisión bibliográfica [PDF]
, 2019 El albinismo comprende un grupo de enfermedades hereditarias que se caracterizan por falta o ausencia en la biosíntesis de la melanina. Existen dos grandes tipos: albinismo oculocutáneo con afectación en cabello, piel y ojos, y albinismo ocular, con ...
Novillo Díaz, José Antonio
core +1 more source
Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal
Asian Journal of Medical Sciences, 2017 Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.
Arjun M Bhari
doaj +1 more source
Dermatopglyphs in Oculocutaneous Albinism
The Anthropologist, 2006 Oculocutaneous albinism can be defined as a syndrome characterised by inherited lack of pigmentation in skin, hair and eyes, along with weak visual acuity, nystagmus, photophobia and other health complications. 13 individuals were identified to be affected with OCA in 9 families from the population of Kolkata and Howrah cities.
Sudip Datta Banik, D.P. Mukherjee
openaire +1 more source
Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino
Indian Journal of Dermatology, 2009 A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya +2 more
doaj