Results 161 to 170 of about 8,712 (196)

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

The Lancet, 2015
International ...
Grange, S., Bekri, S., Artaud-Macari, E., Francois, A., Girault, C., Poitou, A. L., Benhamou, Y., Vianey-Saban, Christine, Benoist, J. F., Chatelet, V., Tamion, F., Guerrot, D.   +11 more
openaire   +4 more sources

Cobalamin C deficiency associated with anti-factor H antibody in young adult

Néphrologie & Thérapeutique, 2019
Introduction Thrombotic microangiopathy (TMA) is a life-threatening condition and involve emergency care. We report the first case of adult onset cobalamin C (CblC) disease associated with anti-factor H antibody-associated hemolytic uremic syndrome (HUS).
C. Philipponnet, J. Desenclos, M. Brailova, J.L. Kemeny, C. Deville, V. Fremeaux-Bacchi, A.E. Heng   +6 more
openaire   +1 more source

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

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

Taurine deficiency as a driver of aging

Science, 2023
Parminder Singh, , Stefano Mangiola
exaly  

Cobalamin C deficiency-associated thrombotic microangiopathy: uncommon or unrecognised?

The Lancet, 2015
openaire   +2 more sources

MLH1 Deficiency-Triggered DNA Hyperexcision by Exonuclease 1 Activates the cGAS-STING Pathway

Cancer Cell, 2021
Junhong Guan, Changzheng Lu, Huiming Lu
exaly  

Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic

Ca-A Cancer Journal for Clinicians, 2011
Timothy A Yap, Johann Sebastian de Bono
exaly  

Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

, 2021
Irini Manoli, Sho Yano, Jennifer L. Sloan, Wadih M. Zein, Laryssa A. Huryn, Joseph Snow, Audrey Thurm, Carol Van Ryzin, Susan Ferry, Jennifer Myles, Oleg A. Shchelochkov, Brian P. Brooks, Charles P. Venditti   +12 more
openalex   +1 more source

Neurotoxic microglia promote TDP-43 proteinopathy in progranulin deficiency

Nature, 2020
Jiasheng Zhang, Dmitry Velmeshev, Andrew M Leidal   +2 more
exaly