Results 141 to 150 of about 452,408 (160)

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

Prenatal Diagnosis, 2019
AbstractObjectiveThis study aimed to validate the feasibility of haplotype‐based noninvasive prenatal diagnosis (NIPD) of cobalamin C (cblC) deficiency.MethodThis method includes three steps: First, targeted sequencing was performed on 21 families affected by cblC deficiency (including the couples and probands).
Lianshu Han, Chao Chen, Fengyu Guo, Jun Ye, Zhiyu Peng, Wenjuan Qiu, Yaoshen Wang, Wei Li, Huiwen Zhang, Lili Liang, Yu Wang, Huanhuan Wang, Xing Ji, Jun Sun, Xuefan Gu   +14 more
openaire   +2 more sources

Hyperpyrexia Resulting in Encephalopathy in a 14-Month-Old Patient With cblC Disease

Brain and Development, 2011
Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs.
Sarah C Grünert, Andrea Superti-Furga, Jörn Oliver Sass   +2 more
exaly   +2 more sources

Efficacy of monotherapy with hydroxocobalamin in patients with cblC deficiency

AbstractBackground: Cobalamin C (cblC) deficiency is the most frequent disease involving intracellular cobalamin metabolism. This study evaluates the efficacy of hydroxocobalamin (OHCbl) monotherapy in patients with stable cblC disease, aiming to simplify treatment strategies.Methods: This retrospective cohort study enrolled cblC patients with a follow-
Si Ding, Lili Hao, Yi Ding, Yuxin Deng, Ting Chen, Xia Zhan, Peng Xu, Chiju Yang, Hui Zou, Yongxing Chen, Shengnan Wu, Yufeng Wang, Min Yang, Lili Liang, Lianshu Han   +14 more
openaire   +1 more source

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency

Journal of Neurology, 2022
Di Giacomo R., Salsano E., Deleo F., Pastori C., Didato G., Stabile A., Ferrario R., Giovagnoli A. R., Benzoni C., Sarro L., Visani E., Canafoglia L.   +11 more
openaire   +3 more sources

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy

Pediatric Research
Cobalamin C (cblC) deficiency, caused by MMACHC mutations, is a rare metabolic disorder with multisystem involvement. Pulmonary hypertension (PH) is an underrecognized but potentially life-threatening complication. This study aimed to characterize the clinical features and treatment outcomes of PH in children with cblC deficiency, particularly those ...
Ruxuan, He, Jinrong, Liu, Xiaolei, Tang, Hui, Liu, Yuelin, Shen, Xiaoyan, Zhang, Huimin, Li, Shunying, Zhao, Haiming, Yang   +8 more
openaire   +2 more sources

RESTORING MMACHC EXPRESSION: TRIDs AS A PROMISING APPROACH FOR cblC DEFICIENCY TREATMENT

Rare genetic diseases, often defined as ''orphan diseases'' due to their low influence and limited therapeutic options, have always represented a demanding challenge for research and medicine. Recent attention has focused on stop mutations, one of the different classes of mutations responsible for these pathologies.
Riccardo VARRICA, Silvia VILASI, Rosa PASSANTINO, Lisa LONGO, Anita SAMMARCO, Marco TUTONE, Sefora MARINO, Ivana PIBIRI, Laura LENTINI   +8 more
openaire   +1 more source

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

2018
Q1
Richard, Eva, Jorge-Finnigan, Ana, Garcia-Villoria, Judit, Merinero, Begoña, Desviat, Lourdes R., Gort, Laura, Briones, Paz, Leal, Fátima, Pérez-Cerdá, Celia, Ribes, Antonia, Ugarte, Magdalena, Pérez, Belén, Aguirre, A., Andrés, M., Badía, J., Baldellou, A., Couce, M. L., García-Cazorla, A., García-Silva, M. T., Lama, R., Lopez-Mendoza, S., Martínez-Pardo, M., Olivares, J. L., Parini, R., Parraga, D., Pedrón, C., Peña, L., Pineda, M., Pintos, G., Porta, R., Roselló, P., Ruiz, A., Toro, M., Urbón, A., Vernet, A., Vilaseca, M. A., Yoldi, M. E.   +36 more
openaire   +1 more source

Intracellular Processing of Vitamin B12 by MMACHC (CblC)

Vitamins and Hormones, 2022
Luciana Hannibal, Donald W Jacobsen
exaly  

Noninvasive Prenatal Diagnosis of Cobalamin C (cblC) Deficiency Through Target Region Sequencing of Cell-Free DNA in Maternal Plasma

Prenatal Diagnosis, 2020
Yan Xu, Lili Liang, Wenjuan Qiu
exaly  

Hydroxocobalamin monotherapy in patients with cblC deficiency: Biochemical analysis and clinical observations

Molecular Genetics and Metabolism
Si Ding, Lili Hao, Yi Ding, Yuxin Deng, Ting Chen, Xia Zhan, Peng Xu, Chiju Yang, Hui Zou, Yongxing Chen, Shengnan Wu, Yufeng Wang, Min Yang, Lili Liang, Lianshu Han   +14 more
openaire   +1 more source