Results 91 to 100 of about 452,408 (160)

Oxidation and repair of oxidative damage in the GSH-dependent enzyme CblC [PDF]

, 2019
The cblC disease is the most common inborn error of cobalamin metabolism. This is a monogenic disorder that affects all organs with patients presenting symptoms including cardiovascular, neurological, musculoskeletal, hematological and ocular problems ...
Tanimowo, Houston Segun
core  

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

, 2015
BACKGROUND: Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene.
Rutsch, Frank, Koenig, Jens C, Baumgartner, Matthias R; https://orcid.org/, Beck, Bodo B, Konrad, Martin, Bockmeyer, Clemens, Kranz, Brigitta   +6 more
core   +1 more source

Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

, 2013
Pulmonary arterial hypertension (PAH) and renal thrombotic microangiopathy (rTMA) are rare diseases in childhood, frequently leading to death and end-stage renal disease, respectively. Their combined occurrence has been reported anecdotally.
Losito, Attilio, Kar, N.C.A.J. van de, Losito, A., Roofthooft, M.T., Westra, Dineke, Berger, R.M., Roofthooft, Marcus T., Teertstra, Thea K., Komhoff, M., de Kar, Nicole C. A. J. van, Teertstra, T.K., Komhoff, Martin, Berger, Rolf M. F.; id_orcid, Westra, D.   +13 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Francesca Chiappe, Maria Barbara Lepori, Simona Incollu, Antonietta Zappu, Georgios Loudianos   +4 more
core   +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  

Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

Journal of Biological Chemistry, 1979
I, Mellman, H F, Willard, P, Youngdahl-Turner, L E, Rosenberg   +3 more
openaire   +2 more sources

Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series. [PDF]

J Clin Immunol
He R, Liu J, Zhao S, Yang H.
europepmc   +1 more source

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds. [PDF]

ACS Omega
Zhi HJ, Ding Y, Deng YX, Chen T, Cao Y, Chang SY, Zhan X, Xu F, Hao LL, Liang LL, Qiu WJ, Zhang HW, Gu XF, Han LS.   +13 more
europepmc   +1 more source

Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities. [PDF]

Pharmaceutics
Cuello-Rodríguez S, Sanna M, Lecoeuche I, Sarmento B, Otero-Espinar FJ, Díaz-Tomé V.   +5 more
europepmc   +1 more source