Results 31 to 40 of about 1,384 (167)
Wolfram Syndrome in a Family with Variable Expression
Acta Medica, 2001 Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy.
Abdurrahman Kadayifci +3 more
doaj +1 more source
Atención Primaria, 2022 Resumen: Las enfermedades raras, pese a su baja frecuencia individual, afectan globalmente al 7% de la población, por lo que el profesional de Atención Primaria (AP) tendrá varios de estos pacientes bajo seguimiento.
Gema Esteban-Bueno +4 more
doaj +1 more source
Taste and smell function in Wolfram syndrome
Orphanet Journal of Rare Diseases, 2020 Background Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration.
Raul Alfaro +5 more
doaj +1 more source
Cells, 2021 Wolfram syndrome (WS), also known as a DIDMOAD (diabetes insipidus, early-onset diabetes mellitus, optic nerve atrophy and deafness) is a rare autosomal disorder caused by mutations in the Wolframin1 (WFS1) gene.
Toomas Jagomäe +12 more
doaj +1 more source
Audiologic and molecular genetic findings in DIDMOAD-syndrome
, 2005 Wir stellen audiologische und molekulargenetische Befunde einer deutschen Familie mit DIDMOAD-Syndrom vor. DIDMOAD steht für eine neurodegenerative Erkrankung mit den Symptomen Diabetes mellitus, Diabetes insipidus, Optikusatrophie und Schwerhörigkeit ...
Kunz, J +4 more
core +1 more source
Developmental Glaucoma with Central Diabetes Insipidus: A Case Report and Review of Literature
Delhi Journal of Ophthalmology, 2016 Association of developmental glaucoma with diabetes insipidus is a rare condition with only single citation as a part of DIDMOAD syndrome. However it has never been previously reported as an association with isolated diabetes insipidus.
Piyush Kumar R Ramavat +6 more
doaj +1 more source
Presentación de dos hermanos con síndrome de Wolfram
Correo Científico Médico, 2016 El síndrome de Wolfram es una enfermedad neurodegenerativa progresiva con transmisión autosómica recesiva, caracterizada por la presencia de diabetes mellitus y atrofia óptica, también pueden estar presentes la diabetes insípida y la disacusia ...
Josefina Chang Velázquez +4 more
doaj +2 more sources
Síndrome de Wolfram (DIDMOAD) — Um Caso Clínico
, 2014 Os autores apresentam o caso clínico de uma criança do sexo feminino 8 anos de idade com Diabetes Mellitus insulinodependente com poliuria acentuada e diminuição da acuidade visual, cuja investigação levou ao diagnóstico de Atrofia óptica, Diabetes ...
Moreira, Ana +3 more
core +1 more source
Frontiers in Endocrinology, 2018 ObjectiveWolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA).
Lian Duan +7 more
doaj +1 more source
Wolfram syndrome with childhood glaucoma: A rare case report with review of literature
Journal of Clinical Ophthalmology and Research, 2020 Wolfram syndrome (WFS) is a rare neurodegenerative disorder characterized by young-onset diabetes mellitus, central diabetes insipidus, optic nerve atrophy, and hearing loss.
Divya Kesarwani +5 more
doaj +1 more source