Results 11 to 20 of about 7,958 (196)

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +2 more sources

Retinal dystrophies: A look beyond the eyes

American Journal of Ophthalmology Case Reports, 2022
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.
Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P. Shankar   +5 more
doaj   +1 more source

The Senses Disease: a Refsum adult disease case report and a revision of literature

Senses and Sciences, 2014
Refsum Disease is a rare autosomal recessive error of lipid metabolism; onset of symptoms in "classic Refsum disease" or "adult Refsum disease" ranges from age seven months to after age 50 years.
Filippo Camerota, Claudia Celletti
doaj   +1 more source

Refsum Disease

Kumar R, Hodis B, De Jesus O.
europepmc   +2 more sources

Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. [PDF]

, 2010
Background/objectivesA common polymorphism, C776G, in the plasma B12 transport protein transcobalamin (TC), encodes for either proline or arginine at codon 259.
Allen, LH, Garrod, MG, Green, R, Haan, MN, Miller, JW   +4 more
core   +2 more sources

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder

Case Reports in Gastroenterology, 2023
Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma.
Mark Hsu, Amith Subhash
doaj   +1 more source

Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health. [PDF]

J Neurochem
Elevated homocysteine results from genetic variants, impaired one‐carbon metabolism, nutritional deficiencies, and metabolic disorders. Hyperhomocysteinemia drives oxidative stress, inflammation, excitotoxicity, and epigenetic disruption, affecting multiple organs and systems.
Ramires Júnior OV, Prauchner GRK, Rieder AS, Leite AKO, Farias CP, Wyse ATS.   +5 more
europepmc   +2 more sources

Refsum disease [PDF]

, 2015
Wanders, Ronald JA, Waterham, Hans R, Leroy, Bart   +2 more
openaire   +3 more sources

Homocysteine in cerebrovascular disease: An independent risk factor for subcortical vascular encephalopathy [PDF]

, 2001
Hyperhomocysteinemia is a risk factor for obstructive large-vessel disease. Here, we studied plasma concentrations of homocysteine and vitamins in patients suffering from subcortical vascular encephalopathy (SVE), a cerebral small-vessel disease leading ...
Aufenanger, Johannes, Bertsch, Thomas, Casarin, Wendy, Fassbender, Klaus, Höly, Sabine, Kuehl, Sandra, Mielke, Orell, Muehlhauser, Frank, Ragoschke, Andreas, Walter, Silke, Zimmer, Wilma   +10 more
core   +1 more source

Plasma homocysteine, folate and vitamin B(12) compared between rural Gambian and UK adults. [PDF]

, 2006
The disease risk indicator plasma total homocysteine (tHcy) is influenced by genetic and environmental factors, including folate and vitamin B(12) status. Little is known about the determinants of tHcy in rural West Africa.
Bates, Christopher J, Mansoor, M Azam, Moore, Sophie E, Prentice, Andrew M   +3 more
core   +1 more source