Results 31 to 40 of about 13,177 (269)
Cureus, 2021 Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine beta-synthase with autosomal recessive inheritance. Clinically it is characterized by lens subluxation, skeletal abnormalities, and thromboembolic accidents.
A. Miraftabi, A. Zand, Kaveh Abri Aghdam
semanticscholar +1 more source
Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model [PDF]
Journal of Clinical Investigation, 2016 Erez M. Bublil +7 more
openalex +2 more sources
BMC Health Services Research, 2020 Background Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000–200,000 people in the United States (US).
M. Sellos-Moura +5 more
semanticscholar +1 more source
The Spectrum of Mutations of Homocystinuria in the MENA Region
Genes, 2020 Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine.
D. Al-Sadeq, Gheyath K Nasrallah
semanticscholar +1 more source
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?
Sexual Medicine, 2018 We report on the 1st case of ischemic priapism secondary to poorly controlled homocystinuria. Homocystinuria is a rare, autosomal recessive, inherited disorder of metabolism that is caused by a deficiency of cystathionine synthase, leading to marked ...
Mark Johnson, BSc, MBChB +3 more
doaj +1 more source
Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R +7 more
core +1 more source
Homocystinuria: Literature Review and Clinical Case Description
Вопросы современной педиатрии, 2019 Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit.
Natalia V. Buchinskaya +2 more
doaj +1 more source
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
core +6 more sources
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria
Biomacromolecules, 2017 Homocystinuria due to loss of cystathionine beta-synthase (CBS) causes accumulation of homocysteine and depletion of cysteine. Current treatments are suboptimal, and thus the development of an enzyme replacement therapy based on PEGylated human truncated
Tomáš Majtán +4 more
openalex +3 more sources
Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management
Kerala Journal of Ophthalmology, 2023 A 13-year-old girl with a systemic diagnosis of homocystinuria (methylenetetrahydrofolate reductase deficiency type) associated with intellectual disability, skeletal abnormalities (genu varum, kyphoscoliosis, and arachnodactyly), and pancytopenia ...
Mary Stephen +4 more
doaj +1 more source