Results 11 to 20 of about 10,319 (231)
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +7 more sources
International Journal of Neonatal Screening, 2021 Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway.
Reiko Kagawa +12 more
doaj +1 more source
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria [PDF]
Mol Genet Genomic MedSchematic representation of the study design and findings. Whole‐exome sequencing identified compound heterozygous CBS variants (c.1006C>T and c.1061_1069del) in a Chinese family with classical homocystinuria. Structural modeling, Western blotting, and enzyme activity assays revealed that the novel deletion variant impaired CBS folding and abolished ...
Zhang J +6 more
europepmc +2 more sources
Congenital cataract: An ocular manifestation of classical homocystinuria
Molecular Genetics & Genomic Medicine, 2021 Background Homocystinuria is an autosomal recessive metabolic disorder occurring due to the defects in cystathionine‐β‐synthase enzyme. The study was carried out to investigate a Pakistani family presenting bilateral congenital cataract with symptoms of ...
Neelam Saba, Saba Irshad
doaj +1 more source
Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes
Frontiers in Pediatrics, 2022 Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) using
Ying Liu +7 more
doaj +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
Trial Readiness: Understanding the Natural History of Rare Diseases. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Opladen T +6 more
europepmc +2 more sources
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