Results 71 to 80 of about 1,384 (167)

[A case of DIDMOAD syndrome with urologic symptoms].

Anales de medicina interna (Madrid, Spain : 1984), 1991
A new case of DIDMOAD syndrome is reported on. A complete description is given and the sequential associations are detailed; highlighting the fact that the frequently associated urinary alterations should be considered as part of the same disease.
E, González Sarmiento, P, Ergueta Martín, A, Sáez Fernández, A, Marañón Cabello   +3 more
openaire   +1 more source

There's More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient. [PDF]

J Med Cases, 2023
Kumar J, Ahmed A, Khan M, Ahmed Y.
europepmc   +1 more source

The Neuroradiologic Spectrum of Wolfram Syndrome. [PDF]

Ann Indian Acad Neurol
Lam M, Trikamji B.
europepmc   +1 more source

Optic Nerve Magnetic Resonance Imaging Characteristics in Inherited Optic Neuropathies (.pdf)

, 2016
Inherited optic neuropathies include dominant optic atrophy (DOA), Leber\u27s hereditary optic neuropathy (LHON), and Wolfram syndrome (DIDMOAD). DOA is the most common of these, and mutations in OPA1 account for 40-60% of DOA cases.
Eric D. Gaier; Katherine Boudreault; Isao Nakata; Dean M. Cestari; Janey L. Wiggs; Paul Caruso; Joseph F. Rizzo III
core  

Two Cases of Wolfram-Related Optic Atrophy: A New Mutation and A Misdiagnosis of Normal-tension Glaucoma

, 2017
The phenotypic spectrum of WFS1-related Disorders; spanning from Wolfram syndrome (WFS) to WFS1-related low-frequency hearing loss, are linked to mutations in the WFS1 gene.
Victoria S. Pelak, MD
core  

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source

Багатогранний діабет: клінічний випадок

DIDMOAD syndrome (Wolfram syndrome type 1 is an orphan multisystem mitochondrial dysfunction, the name of which is an acronym for the combination of the following nosologies: Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (OA), Deafness ...
Єнговатова, В.А., Абатуров, О.Є., Токарєва, Н.М., Нікуліна, А.О.   +3 more
core  

Wolfram syndrome: A perspective on gene editing as a therapeutic strategy. [PDF]

Neural Regen Res
Bergmans S, De Groef L.
europepmc   +1 more source

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal. [PDF]

Cureus
Shah TP, Sidlow R, Sah PK.
europepmc   +1 more source

[The DIDMOAD-syndrome].

Problemy endokrinologii, 1992
A M, Kaĭlakov, M M, Abdurakhmanov, O Sh, Eshonov, L A, Kaĭlakov   +3 more
openaire   +1 more source