Results 151 to 160 of about 19,626,692 (182)

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications

Ophthalmic Genetics, 2014
To describe the retinal structure in a patient with cobalamin C (cblC) disease.A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT).The patient carried a ...
Tomas S, Aleman, Frank, Brodie, Christopher, Garvin, Dina Y, Gewaily, Can H, Ficicioglu, Monte D, Mills, Brian J, Forbes, Albert M, Maguire, Stefanie L, Davidson   +8 more
openaire   +2 more sources

Cognitive and social profiles in two patients with cobalamin C disease

Journal of Inherited Metabolic Disease, 2009
SummaryCobalamin C (cblC) disease, an inborn error of vitamin B12 metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is known of the long‐term effects of the disorder on cognition and behaviour in children. Here, the complete neuropsychological profiles of two 12‐year‐old girls with cblC disease are presented.
M H, Beauchamp, V, Anderson, A, Boneh
openaire   +2 more sources

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

European Journal of Pediatrics, 2014
Methylmalonic aciduria and homocystinuria, cobalamin C (CblC) disease (OMIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism and is caused by an inability of the cell to convert Cbl to its active forms (MeCbl and AdoCbl).
Mehmet, Gündüz, Filiz, Ekici, Eda, Özaydın, Serdar, Ceylaner, Belen, Perez   +4 more
openaire   +2 more sources

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.

Genetic counseling (Geneva, Switzerland), 2015
Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem ...
Ozturk, Z., Akbas, Y., Karaoglu, B., Okur, İLYAS, Hirfanoglu, TUĞBA, Serdaroglu, A., Tumer, L., Aydin, K., Arhan, E.   +8 more
openaire   +4 more sources

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect

Molecular Genetics and Metabolism, 2013
Carlo, Dionisi-Vici, Diego, Martinelli, Ferdinando, Ceravolo, Sara, Boenzi, Anna, Pastore   +4 more
openaire   +2 more sources

Cobalamin Intake and Related Biomarkers: Examining Associations With Mortality Risk Among Adults With Type 2 Diabetes in NHANES

Diabetes Care, 2022
Shanjie Wang, Yiying Zhang
exaly  

Cutaneous manifestations of cobalamin C deficiency

Journal of the American Academy of Dermatology, 2011
openaire   +1 more source

Pathobiological Insights into Neurological Involvement In Cobalamin C (Cbl-C) deficiency

2016
Cobalamin C (Cbl-C) defects are inherited autosomal recessive disorders of vitamin B12 (or cyanocobalamin [CNCbl]) metabolism. These defects are caused by mutations in the methylmalonic aciduria and homocystinuria Cbl-C type (MMACHC; MIM # 609831) gene located on chromosome 1p34.1, which catalyzes the reductive decyanation of CNCbl, thus impairing the ...
Ceravolo F, Grisolia M, Nicoletti, A, Sestito S, Salpietro V, Polizzi A, RUGGIERI, MARTINO, Bonapace G, Concolino D.   +8 more
openaire   +1 more source

Differential Stability of Various Analogs of Cobalamin to Vitamin C

Science, 1952
D V, FROST, M, LAPIDUS, K A, PLAUT, E, SCHERFLING, H H, FRICKE   +4 more
openaire   +2 more sources

Theoretical Determination of the Co−C Bond Energy Dissociation in Cobalamins

Journal of the American Chemical Society, 2001
Andruniow, Tadeusz, Zgierski, Marek Z., Kozlowski, Pawel M.   +2 more
openaire   +3 more sources