Results 101 to 110 of about 1,993 (190)

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

The Turkish Journal of Pediatrics, 2013
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation.
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun   +7 more
doaj  

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

, 2013
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease conversion of hydroxocobalamin  (HOCbl) to methylcobalamin, while in cblC, mutations in ...
Dreumont, Natacha, Flayac, Justine, Chéry, Céline, Alberto, Jean-Marc, Fowler, Brian, Feillet, François, Fofou-Caillierez, Ma'atem B, Watkins, David, Coelho, David, Mrabet, Nadir T, Pupavac, Mihaela, Paoli, Justine, Rosenblatt, David S, Guéant, Jean-Louis, Camadro, Jean-Michel   +14 more
core   +1 more source

Successful intrauterine treatment of a patient with cobalamin C defect

Molecular Genetics and Metabolism Reports, 2016
Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical features of early-onset disease and prevent clinical symptoms in late-onset ...
Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala, Brian Fowler, Dorothea Haas, Matthias R. Baumgartner   +7 more
doaj   +1 more source

Success factors of social innovations by a community-based learning course (CBLC) [PDF]

, 2014
This is the success story of a community-based learning course (CBLC) project addressing the concerns of the international community of students and staff of Wageningen University and Research Centre (WageningenUR).
Goris, M., Wink, G., Casimir, G.
core  

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

, 2009
Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B12 metabolism.
Pérez, Belén, Baldellou, A., Desviat, Lourdes R., Pedrón, C., Couce, M. L., García-Cazorla, A., Ruiz, A., Yoldi, M. E., Lopez-Mendoza, S., Martínez-Pardo, M., Urbón, A., Garcia-Villoria, Judit, Merinero, Begoña, Pérez-Cerdá, Celia, Vernet, A., Pintos, G., Porta, R., Parraga, D., Gort, Laura, Toro, M., Vilaseca, M. A., Richard, Eva, Peña, L., Pineda, M., Badía, J., Leal, Fátima, Jorge-Finnigan, Ana, Briones, Paz, Andrés, M., Ugarte, Magdalena, García-Silva, M. T., Parini, R., Lama, R., Roselló, P., Ribes, Antonia, Aguirre, A., Olivares, J. L., Belén Pérez, Laura Gort, Judit Garcia-Villoria, null null, Magdalena Ugarte, Paz Briones, Eva Richard, Antonia Ribes, Celia Pérez-Cerdá, Begoña Merinero, Ana Jorge-Finnigan, Fátima Leal, Lourdes R. Desviat   +49 more
core   +1 more source

Studying an orphan disease by a biophysical approach: The case of cblC

Il Nuovo Cimento C
A rare disease, as defined by the European Union, is one that affects fewer than 5 persons per 10000, predominantly children. These conditions often lack effective treatments and are considered orphan diseases. Despite their rarity, there are numerous rare diseases, sharing origin and common underlying molecular mechanisms.
Vilasi S., Longo L., Randazzo L., Bollati M., Carrotta R., Costa M. A., De Rosa M., Mangione M. R., Martorana V., Milani M., Ortore M. G., Tutone M., Passantino R.   +12 more
openaire   +1 more source

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia

BMC Nephrology
Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in ...
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +1 more source

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

Molecular Genetics and Metabolism Reports
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects.
Clara Hjalmarsson, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren   +7 more
doaj   +1 more source

Early Onset Methylmalonic Aciduria and Homocystinuria cblC Type With Demyelinating Neuropathy [PDF]

, 2020
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B 12 (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotypephenotype correlation.
MD Carlo Fusco, MD Valentina Ucchino, MD Daniele Frattini, PhD Barbara Tavazzi, MD Elvio Della Giustina   +4 more
core  

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

Molecular Genetics and Metabolism Reports
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou   +11 more
doaj   +1 more source